ClinVar

NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17395230 (on Assembly GRCh38)
• Chr11: 17416777 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)

HGVS:

• NC_000011.10:g.17395230C>T
• NG_008867.1:g.86673G>A
• NM_000352.6:c.4353G>AMANE SELECT
• NM_001287174.3:c.4356G>A
• NM_001351295.2:c.4419G>A
• NM_001351296.2:c.4353G>A
• NM_001351297.2:c.4350G>A
• NP_000343.2:p.Trp1451Ter
• NP_001274103.1:p.Trp1452Ter
• NP_001338224.1:p.Trp1473Ter
• NP_001338225.1:p.Trp1451Ter
• NP_001338226.1:p.Trp1450Ter
• LRG_790t1:c.4353G>A
• LRG_790t2:c.4356G>A
• LRG_790:g.86673G>A
• LRG_790p1:p.Trp1451Ter
• LRG_790p2:p.Trp1452Ter
• NC_000011.9:g.17416777C>T
• NM_000352.3:c.4353G>A
• NR_147094.2:n.4648G>A

This HGVS expression did not pass validation

Protein change:

W1450*

Links:

dbSNP: rs1057516404

NCBI 1000 Genomes Browser:

rs1057516404

Molecular consequence:

• NR_147094.2:n.4648G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000352.6:c.4353G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001287174.3:c.4356G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351295.2:c.4419G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351296.2:c.4353G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001351297.2:c.4350G>A - nonsense - [Sequence Ontology: SO:0001587]