ClinVar

NM_000352.6(ABCC8):c.2040+100G>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: 17428189 (on Assembly GRCh38)
• Chr11: 17449736 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.2040+100G>T

HGVS:

• NC_000011.10:g.17428189C>A
• NG_008867.1:g.53714G>T
• NM_000352.6:c.2040+100G>TMANE SELECT
• NM_001287174.3:c.2040+100G>T
• NM_001351295.2:c.2106+100G>T
• NM_001351296.2:c.2037+100G>T
• NM_001351297.2:c.2037+100G>T
• LRG_790t1:c.2040+100G>T
• LRG_790t2:c.2040+100G>T
• LRG_790:g.53714G>T
• NC_000011.9:g.17449736C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs948658520

NCBI 1000 Genomes Browser:

rs948658520

Molecular consequence:

• NM_000352.6:c.2040+100G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287174.3:c.2040+100G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351295.2:c.2106+100G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351296.2:c.2037+100G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351297.2:c.2037+100G>T - intron variant - [Sequence Ontology: SO:0001627]