ClinVar

NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)

Gene:

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17404525 (on Assembly GRCh38)
• Chr11: 17426072 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)

HGVS:

• NC_000011.10:g.17404525G>A
• NG_008867.1:g.77378C>T
• NM_000352.6:c.3544C>TMANE SELECT
• NM_001287174.3:c.3547C>T
• NM_001351295.2:c.3610C>T
• NM_001351296.2:c.3544C>T
• NM_001351297.2:c.3541C>T
• NP_000343.2:p.Arg1182Trp
• NP_001274103.1:p.Arg1183Trp
• NP_001338224.1:p.Arg1204Trp
• NP_001338225.1:p.Arg1182Trp
• NP_001338226.1:p.Arg1181Trp
• LRG_790t1:c.3544C>T
• LRG_790t2:c.3547C>T
• LRG_790:g.77378C>T
• LRG_790p1:p.Arg1182Trp
• LRG_790p2:p.Arg1183Trp
• NC_000011.9:g.17426072G>A
• NM_000352.3:c.3544C>T
• NM_000352.5:c.3544C>T
• NR_147094.2:n.3693C>T

This HGVS expression did not pass validation

Protein change:

R1181W; ARG1182TRP

Links:

OMIM: 600509.0031; dbSNP: rs797045209

NCBI 1000 Genomes Browser:

rs797045209

Molecular consequence:

• NM_000352.6:c.3544C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.3547C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.3610C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.3544C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.3541C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.3693C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1