ClinVar

NM_015215.4(CAMTA1):c.1207G>C (p.Glu403Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 7663754 (on Assembly GRCh38)
• Chr1: 7723814 (on Assembly GRCh37)

Preferred name:

NM_015215.4(CAMTA1):c.1207G>C (p.Glu403Gln)

HGVS:

• NC_000001.11:g.7663754G>C
• NG_053148.1:g.883431G>C
• NM_001349608.2:c.1117G>C
• NM_001349609.2:c.1207G>C
• NM_001349610.2:c.1207G>C
• NM_001349612.2:c.1117G>C
• NM_015215.4:c.1207G>CMANE SELECT
• NP_001336537.1:p.Glu373Gln
• NP_001336538.1:p.Glu403Gln
• NP_001336539.1:p.Glu403Gln
• NP_001336541.1:p.Glu373Gln
• NP_056030.1:p.Glu403Gln
• NC_000001.10:g.7723814G>C

This HGVS expression did not pass validation

Protein change:

E373Q

Links:

dbSNP: rs1558081450

NCBI 1000 Genomes Browser:

rs1558081450

Molecular consequence:

• NM_001349608.2:c.1117G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349609.2:c.1207G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349610.2:c.1207G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349612.2:c.1117G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015215.4:c.1207G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1