ClinVar

NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr)

Gene:

POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 46197800 (on Assembly GRCh38)
• Chr1: 46663472 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr)

HGVS:

• NC_000001.11:g.46197800G>T
• NG_009205.3:g.27506C>A
• NM_001243766.2:c.22C>A
• NM_017739.4:c.22C>AMANE SELECT
• NP_001230695.2:p.Pro8Thr
• NP_060209.4:p.Pro8Thr
• LRG_701t1:c.22C>A
• LRG_701t2:c.22C>A
• LRG_701:g.27506C>A
• LRG_701p1:p.Pro8Thr
• LRG_701p2:p.Pro8Thr
• NC_000001.10:g.46663472G>T
• NG_009205.2:g.27506C>A
• NM_017739.3:c.22C>A

This HGVS expression did not pass validation

Protein change:

P8T

Links:

dbSNP: rs186444670

NCBI 1000 Genomes Browser:

rs186444670

Molecular consequence:

• NM_001243766.2:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.22C>A - missense variant - [Sequence Ontology: SO:0001583]