ClinVar

NM_000352.6(ABCC8):c.822+20C>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: 17461563 (on Assembly GRCh38)
• Chr11: 17483110 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.822+20C>T

HGVS:

• NC_000011.10:g.17461563G>A
• NG_008867.1:g.20340C>T
• NM_000352.6:c.822+20C>TMANE SELECT
• NM_001287174.3:c.822+20C>T
• NM_001351295.2:c.822+20C>T
• NM_001351296.2:c.819+23C>T
• NM_001351297.2:c.819+23C>T
• LRG_790t1:c.822+20C>T
• LRG_790t2:c.822+20C>T
• LRG_790:g.20340C>T
• NC_000011.9:g.17483110G>A
• NM_000352.3:c.822+20C>T
• NM_000352.4:c.822+20C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs181998151

NCBI 1000 Genomes Browser:

rs181998151

Molecular consequence:

• NM_000352.6:c.822+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287174.3:c.822+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351295.2:c.822+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351296.2:c.819+23C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351297.2:c.819+23C>T - intron variant - [Sequence Ontology: SO:0001627]