ClinVar

NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2588836 (on Assembly GRCh38)
• Chr11: 2610066 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)

HGVS:

• NC_000011.10:g.2588836G>A
• NG_008935.1:g.148846G>A
• NM_000218.3:c.1375G>AMANE SELECT
• NM_001406836.1:c.1279G>A
• NM_001406837.1:c.1105G>A
• NM_001406838.1:c.835G>A
• NM_181798.2:c.994G>A
• NP_000209.2:p.Asp459Asn
• NP_000209.2:p.Asp459Asn
• NP_001393765.1:p.Asp427Asn
• NP_001393766.1:p.Asp369Asn
• NP_001393767.1:p.Asp279Asn
• NP_861463.1:p.Asp332Asn
• NP_861463.1:p.Asp332Asn
• LRG_287t1:c.1375G>A
• LRG_287t2:c.994G>A
• LRG_287:g.148846G>A
• LRG_287p1:p.Asp459Asn
• LRG_287p2:p.Asp332Asn
• NC_000011.9:g.2610066G>A
• NM_000218.2:c.1375G>A
• NM_181798.1:c.994G>A
• NR_040711.2:n.1268G>A

This HGVS expression did not pass validation

Protein change:

D279N

Links:

dbSNP: rs747704276

NCBI 1000 Genomes Browser:

rs747704276

Molecular consequence:

• NM_000218.3:c.1375G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.1279G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.1105G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406838.1:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]