ClinVar

NM_006888.6(CALM1):c.303C>T (p.Ile101=)

Gene:

CALM1:calmodulin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

• Chr14: 90404396 (on Assembly GRCh38)
• Chr14: 90870740 (on Assembly GRCh37)

Preferred name:

NM_006888.6(CALM1):c.303C>T (p.Ile101=)

HGVS:

• NC_000014.9:g.90404396C>T
• NG_013338.1:g.12414C>T
• NM_001363669.2:c.195C>T
• NM_001363670.2:c.306C>T
• NM_006888.6:c.303C>TMANE SELECT
• NP_001350598.1:p.Ile65=
• NP_001350599.1:p.Ile102=
• NP_008819.1:p.Ile101=
• NC_000014.8:g.90870740C>T
• NM_006888.4:c.303C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143503733

NCBI 1000 Genomes Browser:

rs143503733

Molecular consequence:

• NM_001363669.2:c.195C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363670.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006888.6:c.303C>T - synonymous variant - [Sequence Ontology: SO:0001819]