ClinVar

NM_001195553.2(DCX):c.1077G>A (p.Ser359=)

Gene:

DCX:doublecortin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 111301711 (on Assembly GRCh38)
• ChrX: 110544939 (on Assembly GRCh37)

Preferred name:

NM_001195553.2(DCX):c.1077G>A (p.Ser359=)

HGVS:

• NC_000023.11:g.111301711C>T
• NG_011750.1:g.115468G>A
• NM_000555.3:c.1302G>A
• NM_001195553.2:c.1077G>AMANE SELECT
• NM_001369370.1:c.1077G>A
• NM_001369371.1:c.1074G>A
• NM_001369372.1:c.1062G>A
• NM_001369373.1:c.*4G>A
• NM_001369374.1:c.*4G>A
• NM_001410715.1:c.*4G>A
• NM_178151.3:c.1059G>A
• NM_178152.3:c.1074G>A
• NM_178153.3:c.1059G>A
• NP_000546.2:p.Ser434=
• NP_001182482.1:p.Ser359=
• NP_001356299.1:p.Ser359=
• NP_001356300.1:p.Ser358=
• NP_001356301.1:p.Ser354=
• NP_835364.1:p.Ser353=
• NP_835365.1:p.Ser358=
• NP_835366.1:p.Ser353=
• NC_000023.10:g.110544939C>T
• NM_178153.2:c.1059G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001369373.1:c.*4G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001369374.1:c.*4G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001410715.1:c.*4G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000555.3:c.1302G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195553.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369370.1:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369371.1:c.1074G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369372.1:c.1062G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178151.3:c.1059G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178152.3:c.1074G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_178153.3:c.1059G>A - synonymous variant - [Sequence Ontology: SO:0001819]