ClinVar

NM_000352.6(ABCC8):c.2031C>T (p.Cys677=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17428298 (on Assembly GRCh38)
• Chr11: 17449845 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.2031C>T (p.Cys677=)

HGVS:

• NC_000011.10:g.17428298G>A
• NG_008867.1:g.53605C>T
• NM_000352.6:c.2031C>TMANE SELECT
• NM_001287174.3:c.2031C>T
• NM_001351295.2:c.2097C>T
• NM_001351296.2:c.2028C>T
• NM_001351297.2:c.2028C>T
• NP_000343.2:p.Cys677=
• NP_001274103.1:p.Cys677=
• NP_001338224.1:p.Cys699=
• NP_001338225.1:p.Cys676=
• NP_001338226.1:p.Cys676=
• LRG_790t1:c.2031C>T
• LRG_790t2:c.2031C>T
• LRG_790:g.53605C>T
• LRG_790p1:p.Cys677=
• LRG_790p2:p.Cys677=
• NC_000011.9:g.17449845G>A
• NR_147094.2:n.2097C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1955681356

NCBI 1000 Genomes Browser:

rs1955681356

Molecular consequence:

• NR_147094.2:n.2097C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.2031C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.2031C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.2097C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.2028C>T - synonymous variant - [Sequence Ontology: SO:0001819]