ClinVar

NM_006888.6(CALM1):c.398G>T (p.Gly133Val)

Genes:

LOC126862021:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:90870785-90871984 [Gene]
CALM1:calmodulin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

• Chr14: 90404491 (on Assembly GRCh38)
• Chr14: 90870835 (on Assembly GRCh37)

Preferred name:

NM_006888.6(CALM1):c.398G>T (p.Gly133Val)

HGVS:

• NC_000014.9:g.90404491G>T
• NG_013338.1:g.12509G>T
• NG_086519.1:g.151G>T
• NM_001363669.2:c.290G>T
• NM_001363670.2:c.401G>T
• NM_006888.6:c.398G>TMANE SELECT
• NP_001350598.1:p.Gly97Val
• NP_001350599.1:p.Gly134Val
• NP_008819.1:p.Gly133Val
• NC_000014.8:g.90870835G>T
• NM_006888.4:c.398G>T

This HGVS expression did not pass validation

Protein change:

G133V

Molecular consequence:

• NM_001363669.2:c.290G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363670.2:c.401G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006888.6:c.398G>T - missense variant - [Sequence Ontology: SO:0001583]