ClinVar

NM_000352.6(ABCC8):c.3480A>G (p.Thr1160=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17404589 (on Assembly GRCh38)
• Chr11: 17426136 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.3480A>G (p.Thr1160=)

HGVS:

• NC_000011.10:g.17404589T>C
• NG_008867.1:g.77314A>G
• NM_000352.6:c.3480A>GMANE SELECT
• NM_001287174.3:c.3483A>G
• NM_001351295.2:c.3546A>G
• NM_001351296.2:c.3480A>G
• NM_001351297.2:c.3477A>G
• NP_000343.2:p.Thr1160=
• NP_001274103.1:p.Thr1161=
• NP_001338224.1:p.Thr1182=
• NP_001338225.1:p.Thr1160=
• NP_001338226.1:p.Thr1159=
• LRG_790t1:c.3480A>G
• LRG_790t2:c.3483A>G
• LRG_790:g.77314A>G
• LRG_790p1:p.Thr1160=
• LRG_790p2:p.Thr1161=
• NC_000011.9:g.17426136T>C
• NR_147094.2:n.3629A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1954419460

NCBI 1000 Genomes Browser:

rs1954419460

Molecular consequence:

• NR_147094.2:n.3629A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.3480A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287174.3:c.3483A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351295.2:c.3546A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351296.2:c.3480A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351297.2:c.3477A>G - synonymous variant - [Sequence Ontology: SO:0001819]