ClinVar

NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)

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: 2570671 (on Assembly GRCh38)
• Chr11: 2591901 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)

Other names:

p.R174L:CGC>CTC

HGVS:

• NC_000011.10:g.2570671G>T
• NG_008935.1:g.130681G>T
• NM_000218.3:c.521G>TMANE SELECT
• NM_001406836.1:c.521G>T
• NM_001406837.1:c.251G>T
• NM_181798.2:c.140G>T
• NP_000209.2:p.Arg174Leu
• NP_000209.2:p.Arg174Leu
• NP_001393765.1:p.Arg174Leu
• NP_001393766.1:p.Arg84Leu
• NP_861463.1:p.Arg47Leu
• NP_861463.1:p.Arg47Leu
• LRG_287t1:c.521G>T
• LRG_287t2:c.140G>T
• LRG_287:g.130681G>T
• LRG_287p1:p.Arg174Leu
• LRG_287p2:p.Arg47Leu
• NC_000011.9:g.2591901G>T
• NM_000218.2:c.521G>T
• NM_181798.1:c.140G>T
• NR_040711.2:n.414G>T

This HGVS expression did not pass validation

Protein change:

R174L

Links:

dbSNP: rs199472697

NCBI 1000 Genomes Browser:

rs199472697

Molecular consequence:

• NM_000218.3:c.521G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.521G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.251G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.140G>T - missense variant - [Sequence Ontology: SO:0001583]