ClinVar

NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)

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: 2572850 (on Assembly GRCh38)
• Chr11: 2594080 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)

HGVS:

• NC_000011.10:g.2572850T>C
• NG_008935.1:g.132860T>C
• NM_000218.3:c.785T>CMANE SELECT
• NM_001406836.1:c.785T>C
• NM_001406837.1:c.515T>C
• NM_181798.2:c.404T>C
• NP_000209.2:p.Leu262Pro
• NP_000209.2:p.Leu262Pro
• NP_001393765.1:p.Leu262Pro
• NP_001393766.1:p.Leu172Pro
• NP_861463.1:p.Leu135Pro
• NP_861463.1:p.Leu135Pro
• LRG_287t1:c.785T>C
• LRG_287t2:c.404T>C
• LRG_287:g.132860T>C
• LRG_287p1:p.Leu262Pro
• LRG_287p2:p.Leu135Pro
• NC_000011.9:g.2594080T>C
• NM_000218.2:c.785T>C
• NM_181798.1:c.404T>C
• NR_040711.2:n.678T>C

This HGVS expression did not pass validation

Protein change:

L135P

Links:

dbSNP: rs1564821090

NCBI 1000 Genomes Browser:

rs1564821090

Molecular consequence:

• NM_000218.3:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406836.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.515T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.404T>C - missense variant - [Sequence Ontology: SO:0001583]