ClinVar

NM_015215.4(CAMTA1):c.1225G>A (p.Val409Met)

Gene:

CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 7663772 (on Assembly GRCh38)
• Chr1: 7723832 (on Assembly GRCh37)

Preferred name:

NM_015215.4(CAMTA1):c.1225G>A (p.Val409Met)

HGVS:

• NC_000001.11:g.7663772G>A
• NG_053148.1:g.883449G>A
• NG_089151.1:g.664G>A
• NM_001349608.2:c.1135G>A
• NM_001349609.2:c.1225G>A
• NM_001349610.2:c.1225G>A
• NM_001349612.2:c.1135G>A
• NM_001410737.1:c.1225G>A
• NM_001410738.1:c.1153G>A
• NM_015215.4:c.1225G>AMANE SELECT
• NP_001336537.1:p.Val379Met
• NP_001336538.1:p.Val409Met
• NP_001336539.1:p.Val409Met
• NP_001336541.1:p.Val379Met
• NP_001397666.1:p.Val409Met
• NP_001397667.1:p.Val385Met
• NP_056030.1:p.Val409Met
• NC_000001.10:g.7723832G>A

This HGVS expression did not pass validation

Protein change:

V379M

Molecular consequence:

• NM_001349608.2:c.1135G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349609.2:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349610.2:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349612.2:c.1135G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410737.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410738.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015215.4:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]