ClinVar

NM_001385648.2(B3GNT8):c.-32-113C>T

Gene:

B3GNT8:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 41426923 (on Assembly GRCh38)
• Chr19: 41932828 (on Assembly GRCh37)

Preferred name:

NM_001385648.2(B3GNT8):c.-32-113C>T

HGVS:

• NC_000019.10:g.41426923G>A
• NG_013004.1:g.34135G>A
• NM_001385648.2:c.-32-113C>TMANE SELECT
• NM_198540.2:c.-32-113C>T
• NC_000019.9:g.41932828G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs45491295

NCBI 1000 Genomes Browser:

rs45491295

Molecular consequence:

• NM_001385648.2:c.-32-113C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198540.2:c.-32-113C>T - intron variant - [Sequence Ontology: SO:0001627]