ClinVar

NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)

Gene:

CALM1:calmodulin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.11

Genomic location:

• Chr14: 90404386 (on Assembly GRCh38)
• Chr14: 90870730 (on Assembly GRCh37)

Preferred name:

NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)

Other names:

N97S

HGVS:

• NC_000014.9:g.90404386A>G
• NG_013338.1:g.12404A>G
• NM_001363669.2:c.185A>G
• NM_001363670.2:c.296A>G
• NM_006888.6:c.293A>GMANE SELECT
• NP_001350598.1:p.Asn62Ser
• NP_001350599.1:p.Asn99Ser
• NP_008819.1:p.Asn98Ser
• NC_000014.8:g.90870730A>G
• NM_006888.4:c.293A>G
• NM_006888.5:c.293A>G
• NP_008819.1:p.Asn98Ser(Asn97Ser)
• P62158:p.Asn98Ser

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 23040497 to determine the location of this allele on the current reference sequence. Their numbering of Asn97Ser, when begun at Met1, will be Asn98Ser.

Protein change:

N62S; ASN97SER

Links:

UniProtKB: P62158#VAR_069223; OMIM: 114180.0002; dbSNP: rs267607277

NCBI 1000 Genomes Browser:

rs267607277

Molecular consequence:

• NM_001363669.2:c.185A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363670.2:c.296A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006888.6:c.293A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1