ClinVar

NM_002249.6(KCNN3):c.191C>A (p.Pro64Gln)

Gene:

KCNN3:potassium calcium-activated channel subfamily N member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 154869774 (on Assembly GRCh38)
• Chr1: 154842250 (on Assembly GRCh37)

Preferred name:

NM_002249.6(KCNN3):c.191C>A (p.Pro64Gln)

HGVS:

• NC_000001.11:g.154869774G>T
• NG_016807.2:g.5505C>A
• NM_001204087.2:c.191C>A
• NM_002249.6:c.191C>AMANE SELECT
• NP_001191016.1:p.Pro64Gln
• NP_002240.3:p.Pro64Gln
• NC_000001.10:g.154842250G>T
• NM_002249.5:c.191C>A

This HGVS expression did not pass validation

Protein change:

P64Q

Links:

dbSNP: rs747696814

NCBI 1000 Genomes Browser:

rs747696814

Molecular consequence:

• NM_001204087.2:c.191C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002249.6:c.191C>A - missense variant - [Sequence Ontology: SO:0001583]