ClinVar

NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp)

Gene:

B4GALNT2:beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.32

Genomic location:

• Chr17: 49169594 (on Assembly GRCh38)
• Chr17: 47246956 (on Assembly GRCh37)

Preferred name:

NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp)

Other names:

B4GALNT2, ARG523TRP (rs61743617); R528W

HGVS:

• NC_000017.11:g.49169594C>T
• NM_001159387.2:c.1387C>TMANE SELECT
• NM_001159388.2:c.1309C>T
• NM_153446.3:c.1567C>T
• NP_001152859.1:p.Arg463Trp
• NP_001152860.1:p.Arg437Trp
• NP_703147.2:p.Arg523Trp
• NC_000017.10:g.47246956C>T
• NM_153446.2:c.1567C>T

This HGVS expression did not pass validation

Protein change:

R437W; ARG528TRP

Links:

OMIM: 111730.0004; dbSNP: rs61743617

NCBI 1000 Genomes Browser:

rs61743617

Molecular consequence:

• NM_001159387.2:c.1387C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001159388.2:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153446.3:c.1567C>T - missense variant - [Sequence Ontology: SO:0001583]