ClinVar

NM_015215.4(CAMTA1):c.1224C>T (p.Ala408=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 7663771 (on Assembly GRCh38)
• Chr1: 7723831 (on Assembly GRCh37)

Preferred name:

NM_015215.4(CAMTA1):c.1224C>T (p.Ala408=)

HGVS:

• NC_000001.11:g.7663771C>T
• NG_053148.1:g.883448C>T
• NG_089151.1:g.663C>T
• NM_001349608.2:c.1134C>T
• NM_001349609.2:c.1224C>T
• NM_001349610.2:c.1224C>T
• NM_001349612.2:c.1134C>T
• NM_001410737.1:c.1224C>T
• NM_001410738.1:c.1152C>T
• NM_015215.3:c.1224C>T
• NM_015215.4:c.1224C>TMANE SELECT
• NP_001336537.1:p.Ala378=
• NP_001336538.1:p.Ala408=
• NP_001336539.1:p.Ala408=
• NP_001336541.1:p.Ala378=
• NP_001397666.1:p.Ala408=
• NP_001397667.1:p.Ala384=
• NP_056030.1:p.Ala408=
• NC_000001.10:g.7723831C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001349608.2:c.1134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349609.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349610.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349612.2:c.1134C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410737.1:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410738.1:c.1152C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015215.4:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1