ClinVar

NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 17395872 (on Assembly GRCh38)
• Chr11: 17417419 (on Assembly GRCh37)

Preferred name:

NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)

Other names:

NM_000352.6(ABCC8):c.4178G>A; p.Arg1393His

HGVS:

• NC_000011.10:g.17395872C>T
• NG_008867.1:g.86031G>A
• NM_000352.6:c.4178G>AMANE SELECT
• NM_001287174.3:c.4181G>A
• NM_001351295.2:c.4244G>A
• NM_001351296.2:c.4178G>A
• NM_001351297.2:c.4175G>A
• NP_000343.2:p.Arg1393His
• NP_001274103.1:p.Arg1394His
• NP_001338224.1:p.Arg1415His
• NP_001338225.1:p.Arg1393His
• NP_001338226.1:p.Arg1392His
• LRG_790t1:c.4178G>A
• LRG_790t2:c.4181G>A
• LRG_790:g.86031G>A
• LRG_790p1:p.Arg1393His
• LRG_790p2:p.Arg1394His
• NC_000011.9:g.17417419C>T
• NM_000352.3:c.4178G>A
• NM_000352.4:c.4178G>A
• NM_000352.5:c.4178G>A
• NR_147094.2:n.4473G>A
• p.ARG1393HIS

This HGVS expression did not pass validation

Protein change:

R1392H

Links:

dbSNP: rs769279368

NCBI 1000 Genomes Browser:

rs769279368

Molecular consequence:

• NM_000352.6:c.4178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287174.3:c.4181G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351295.2:c.4244G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351296.2:c.4178G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351297.2:c.4175G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147094.2:n.4473G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]