ClinVar

NM_001750.7(CAST):c.1122C>T (p.Leu374=)

Gene:

CAST:calpastatin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q15

Genomic location:

• Chr5: 96742678 (on Assembly GRCh38)
• Chr5: 96078382 (on Assembly GRCh37)

Preferred name:

NM_001750.7(CAST):c.1122C>T (p.Leu374=)

HGVS:

• NC_000005.10:g.96742678C>T
• NG_029490.2:g.85642C>T
• NM_001042440.5:c.999C>T
• NM_001042441.3:c.1065C>T
• NM_001042442.3:c.1056C>T
• NM_001042443.3:c.873C>T
• NM_001042444.3:c.750C>T
• NM_001042445.3:c.768C>T
• NM_001042446.3:c.711C>T
• NM_001190442.2:c.834C>T
• NM_001284212.4:c.750C>T
• NM_001284213.4:c.657C>T
• NM_001329966.1:c.1056C>T
• NM_001330626.2:c.1026C>T
• NM_001330627.2:c.999C>T
• NM_001330628.2:c.954C>T
• NM_001330629.2:c.1038C>T
• NM_001330630.2:c.711C>T
• NM_001330631.2:c.834C>T
• NM_001330632.2:c.807C>T
• NM_001330633.2:c.816C>T
• NM_001330634.2:c.777C>T
• NM_001375317.1:c.1011C>T
• NM_001423250.1:c.873C>T
• NM_001423251.1:c.834C>T
• NM_001423252.1:c.834C>T
• NM_001423253.1:c.807C>T
• NM_001423254.1:c.807C>T
• NM_001423255.1:c.768C>T
• NM_001423256.1:c.768C>T
• NM_001423257.1:c.768C>T
• NM_001423258.1:c.768C>T
• NM_001423259.1:c.768C>T
• NM_001423260.1:c.711C>T
• NM_001750.7:c.1122C>TMANE SELECT
• NM_173060.5:c.807C>T
• NP_001035905.1:p.Leu333=
• NP_001035906.1:p.Leu355=
• NP_001035907.1:p.Leu352=
• NP_001035908.1:p.Leu291=
• NP_001035909.1:p.Leu250=
• NP_001035910.1:p.Leu256=
• NP_001035911.1:p.Leu237=
• NP_001177371.1:p.Leu278=
• NP_001271141.1:p.Leu250=
• NP_001271142.1:p.Leu219=
• NP_001316895.1:p.Leu352=
• NP_001317555.1:p.Leu342=
• NP_001317556.1:p.Leu333=
• NP_001317557.1:p.Leu318=
• NP_001317558.1:p.Leu346=
• NP_001317559.1:p.Leu237=
• NP_001317560.1:p.Leu278=
• NP_001317561.1:p.Leu269=
• NP_001317562.1:p.Leu272=
• NP_001317563.1:p.Leu259=
• NP_001362246.1:p.Leu337=
• NP_001410179.1:p.Leu291=
• NP_001410180.1:p.Leu278=
• NP_001410181.1:p.Leu278=
• NP_001410182.1:p.Leu269=
• NP_001410183.1:p.Leu269=
• NP_001410184.1:p.Leu256=
• NP_001410185.1:p.Leu256=
• NP_001410186.1:p.Leu256=
• NP_001410187.1:p.Leu256=
• NP_001410188.1:p.Leu256=
• NP_001410189.1:p.Leu237=
• NP_001741.4:p.Leu374=
• NP_775083.1:p.Leu269=
• NC_000005.9:g.96078382C>T
• NM_001042440.4:c.999C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001042440.5:c.999C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042441.3:c.1065C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042442.3:c.1056C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042443.3:c.873C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042444.3:c.750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042445.3:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042446.3:c.711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001190442.2:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001284212.4:c.750C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001284213.4:c.657C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001329966.1:c.1056C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330626.2:c.1026C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330627.2:c.999C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330628.2:c.954C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330629.2:c.1038C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330630.2:c.711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330631.2:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330632.2:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330633.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330634.2:c.777C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001375317.1:c.1011C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423250.1:c.873C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423251.1:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423252.1:c.834C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423253.1:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423254.1:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423255.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423256.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423257.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423258.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423259.1:c.768C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001423260.1:c.711C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001750.7:c.1122C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_173060.5:c.807C>T - synonymous variant - [Sequence Ontology: SO:0001819]