ClinVar

NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2572061 - 2572062 (on Assembly GRCh38)
• Chr11: 2593291 - 2593292 (on Assembly GRCh37)

Preferred name:

NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs)

HGVS:

• NC_000011.10:g.2572062_2572063del
• NG_008935.1:g.132072_132073del
• NM_000218.3:c.733_734delMANE SELECT
• NM_001406836.1:c.733_734delGG
• NM_001406837.1:c.463_464delGG
• NM_181798.2:c.352_353delGG
• NP_000209.2:p.Gly245Argfs
• NP_000209.2:p.Gly245fs
• NP_001393765.1:p.Gly245Argfs
• NP_001393766.1:p.Gly155Argfs
• NP_861463.1:p.Gly118Argfs
• NP_861463.1:p.Gly118fs
• LRG_287t1:c.733_734del
• LRG_287t2:c.352_353del
• LRG_287:g.132072_132073del
• LRG_287p1:p.Gly245Argfs
• LRG_287p2:p.Gly118fs
• NC_000011.9:g.2593292_2593293del
• NM_000218.2:c.733_734delGG
• NM_000218.2:c.733_734delGG
• NM_000218.3:c.733_734delGGMANE SELECT
• NM_181798.1:c.352_353del
• NR_040711.2:n.626_627delGG

This HGVS expression did not pass validation

Protein change:

G118fs

Links:

dbSNP: rs1554893092

NCBI 1000 Genomes Browser:

rs1554893092

Molecular consequence:

• NM_000218.3:c.733_734del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001406836.1:c.733_734delGG - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001406837.1:c.463_464delGG - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_181798.2:c.352_353delGG - frameshift variant - [Sequence Ontology: SO:0001589]