ClinVar

NM_000352.6(ABCC8):c.4119+93G>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: 17396823 (on Assembly GRCh38)
• Chr11: 17418370 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4119+93G>T

HGVS:

• NC_000011.10:g.17396823C>A
• NG_008867.1:g.85080G>T
• NM_000352.6:c.4119+93G>TMANE SELECT
• NM_001287174.3:c.4122+93G>T
• NM_001351295.2:c.4185+93G>T
• NM_001351296.2:c.4119+93G>T
• NM_001351297.2:c.4116+93G>T
• LRG_790t1:c.4119+93G>T
• LRG_790t2:c.4122+93G>T
• LRG_790:g.85080G>T
• NC_000011.9:g.17418370C>A
• NM_000352.4:c.4119+93G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs4148644

NCBI 1000 Genomes Browser:

rs4148644

Molecular consequence:

• NM_000352.6:c.4119+93G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001287174.3:c.4122+93G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351295.2:c.4185+93G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351296.2:c.4119+93G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351297.2:c.4116+93G>T - intron variant - [Sequence Ontology: SO:0001627]