ClinVar

NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)

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: 2572081 (on Assembly GRCh38)
• Chr11: 2593311 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)

Other names:

p.L251P:CTG>CCG

HGVS:

• NC_000011.10:g.2572081T>C
• NG_008935.1:g.132091T>C
• NM_000218.3:c.752T>CMANE SELECT
• NM_001406836.1:c.752T>C
• NM_001406837.1:c.482T>C
• NM_181798.2:c.371T>C
• NP_000209.2:p.Leu251Pro
• NP_000209.2:p.Leu251Pro
• NP_001393765.1:p.Leu251Pro
• NP_001393766.1:p.Leu161Pro
• NP_861463.1:p.Leu124Pro
• NP_861463.1:p.Leu124Pro
• LRG_287t1:c.752T>C
• LRG_287t2:c.371T>C
• LRG_287:g.132091T>C
• LRG_287p1:p.Leu251Pro
• LRG_287p2:p.Leu124Pro
• NC_000011.9:g.2593311T>C
• NM_000218.2:c.752T>C
• NM_181798.1:c.371T>C
• NR_040711.2:n.645T>C

This HGVS expression did not pass validation

Protein change:

L124P

Links:

dbSNP: rs199472716

NCBI 1000 Genomes Browser:

rs199472716

Molecular consequence:

• NM_000218.3:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.752T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.482T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.371T>C - missense variant - [Sequence Ontology: SO:0001583]