ClinVar

NM_006888.6(CALM1):c.286-141A>C

Gene:

CALM1:calmodulin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

• Chr14: 90404238 (on Assembly GRCh38)
• Chr14: 90870582 (on Assembly GRCh37)

Preferred name:

NM_006888.6(CALM1):c.286-141A>C

HGVS:

• NC_000014.9:g.90404238A>C
• NG_013338.1:g.12256A>C
• NM_001363669.2:c.178-141A>C
• NM_001363670.2:c.289-141A>C
• NM_006888.6:c.286-141A>CMANE SELECT
• NC_000014.8:g.90870582A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs116807296

NCBI 1000 Genomes Browser:

rs116807296

Molecular consequence:

• NM_001363669.2:c.178-141A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363670.2:c.289-141A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_006888.6:c.286-141A>C - intron variant - [Sequence Ontology: SO:0001627]