ClinVar

NM_000352.6(ABCC8):c.2695-2A>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17408519 (on Assembly GRCh38)
• Chr11: 17430066 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.2695-2A>T

HGVS:

• NC_000011.10:g.17408519T>A
• NG_008867.1:g.73384A>T
• NM_000352.6:c.2695-2A>TMANE SELECT
• NM_001287174.3:c.2698-2A>T
• NM_001351295.2:c.2761-2A>T
• NM_001351296.2:c.2695-2A>T
• NM_001351297.2:c.2692-2A>T
• LRG_790t1:c.2695-2A>T
• LRG_790t2:c.2698-2A>T
• LRG_790:g.73384A>T
• NC_000011.9:g.17430066T>A
• NM_001287174.1:c.2698-2A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs863225278

NCBI 1000 Genomes Browser:

rs863225278

Molecular consequence:

• NM_000352.6:c.2695-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001287174.3:c.2698-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001351295.2:c.2761-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001351296.2:c.2695-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001351297.2:c.2692-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

1