ClinVar

NM_000218.3(KCNQ1):c.1092C>G (p.Phe364Leu)

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: 2585271 (on Assembly GRCh38)
• Chr11: 2606501 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.1092C>G (p.Phe364Leu)

HGVS:

• NC_000011.10:g.2585271C>G
• NG_008935.1:g.145281C>G
• NM_000218.3:c.1092C>GMANE SELECT
• NM_001406836.1:c.1032+1726C>G
• NM_001406837.1:c.822C>G
• NM_001406838.1:c.588+1726C>G
• NM_181798.2:c.711C>G
• NP_000209.2:p.Phe364Leu
• NP_000209.2:p.Phe364Leu
• NP_001393766.1:p.Phe274Leu
• NP_861463.1:p.Phe237Leu
• NP_861463.1:p.Phe237Leu
• LRG_287t1:c.1092C>G
• LRG_287t2:c.711C>G
• LRG_287:g.145281C>G
• LRG_287p1:p.Phe364Leu
• LRG_287p2:p.Phe237Leu
• NC_000011.9:g.2606501C>G
• NM_000218.2:c.1092C>G
• NM_181798.1:c.711C>G

This HGVS expression did not pass validation

Protein change:

F237L

Links:

dbSNP: rs2133754700

NCBI 1000 Genomes Browser:

rs2133754700

Molecular consequence:

• NM_001406836.1:c.1032+1726C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406838.1:c.588+1726C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000218.3:c.1092C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406837.1:c.822C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_181798.2:c.711C>G - missense variant - [Sequence Ontology: SO:0001583]