ClinVar

NM_000352.6(ABCC8):c.3399+1G>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: 17405493 (on Assembly GRCh38)
• Chr11: 17427040 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.3399+1G>A

HGVS:

• NC_000011.10:g.17405493C>T
• NG_008867.1:g.76410G>A
• NM_000352.6:c.3399+1G>AMANE SELECT
• NM_001287174.3:c.3402+1G>A
• NM_001351295.2:c.3465+1G>A
• NM_001351296.2:c.3399+1G>A
• NM_001351297.2:c.3396+1G>A
• LRG_790t1:c.3399+1G>A
• LRG_790t2:c.3402+1G>A
• LRG_790:g.76410G>A
• NC_000011.9:g.17427040C>T
• NM_000352.3:c.3399+1G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1554911369

NCBI 1000 Genomes Browser:

rs1554911369

Molecular consequence:

• NM_000352.6:c.3399+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001287174.3:c.3402+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001351295.2:c.3465+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001351296.2:c.3399+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001351297.2:c.3396+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]