ClinVar

NM_000352.6(ABCC8):c.4609-82G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17393210 (on Assembly GRCh38)
• Chr11: 17414757 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4609-82G>A

HGVS:

• NC_000011.10:g.17393210C>T
• NG_008867.1:g.88693G>A
• NG_012446.1:g.450G>A
• NM_000352.6:c.4609-82G>AMANE SELECT
• NM_001287174.3:c.4612-82G>A
• NM_001351295.2:c.4675-82G>A
• NM_001351296.2:c.4609-82G>A
• NM_001351297.2:c.4606-82G>A
• LRG_790t1:c.4609-82G>A
• LRG_790t2:c.4612-82G>A
• LRG_790:g.88693G>A
• NC_000011.9:g.17414757C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs41282912

NCBI 1000 Genomes Browser:

rs41282912

Molecular consequence:

• NM_000352.6:c.4609-82G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287174.3:c.4612-82G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351295.2:c.4675-82G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351296.2:c.4609-82G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351297.2:c.4606-82G>A - intron variant - [Sequence Ontology: SO:0001627]