ClinVar

NM_203293.3(TRIM7):c.1304T>A (p.Leu435Gln)

Genes:

TRIM7-AS2:TRIM7 antisense RNA 2 [Gene - HGNC]
TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

• Chr5: 181195398 (on Assembly GRCh38)
• Chr5: 180622398 (on Assembly GRCh37)

Preferred name:

NM_203293.3(TRIM7):c.1304T>A (p.Leu435Gln)

HGVS:

• NC_000005.10:g.181195398A>T
• NG_029535.1:g.14780T>A
• NM_203293.3:c.1304T>AMANE SELECT
• NM_203294.2:c.680T>A
• NM_203295.2:c.680T>A
• NM_203296.2:c.680T>A
• NM_203297.2:c.758T>A
• NP_976038.1:p.Leu435Gln
• NP_976039.1:p.Leu227Gln
• NP_976040.1:p.Leu227Gln
• NP_976041.1:p.Leu227Gln
• NP_976042.1:p.Leu253Gln
• NC_000005.9:g.180622398A>T
• NM_203293.1:c.1304T>A
• NR_183280.1:n.1292A>T
• NR_183281.1:n.1418A>T
• NR_183282.1:n.1468A>T
• NR_183283.1:n.1594A>T
• NR_183284.1:n.1542A>T
• NR_183285.1:n.1416A>T

This HGVS expression did not pass validation

Protein change:

L227Q

Molecular consequence:

• NM_203293.3:c.1304T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203294.2:c.680T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203295.2:c.680T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203296.2:c.680T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_203297.2:c.758T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_183280.1:n.1292A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_183281.1:n.1418A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_183282.1:n.1468A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_183283.1:n.1594A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_183284.1:n.1542A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_183285.1:n.1416A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]