ClinVar

NM_017739.4(POMGNT1):c.89C>T (p.Thr30Ile)

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: 46197733 (on Assembly GRCh38)
• Chr1: 46663405 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.89C>T (p.Thr30Ile)

HGVS:

• NC_000001.11:g.46197733G>A
• NG_009205.3:g.27573C>T
• NM_001243766.2:c.89C>T
• NM_001410783.1:c.89C>T
• NM_017739.4:c.89C>TMANE SELECT
• NP_001230695.2:p.Thr30Ile
• NP_001397712.1:p.Thr30Ile
• NP_060209.4:p.Thr30Ile
• LRG_701t1:c.89C>T
• LRG_701t2:c.89C>T
• LRG_701:g.27573C>T
• LRG_701p1:p.Thr30Ile
• LRG_701p2:p.Thr30Ile
• NC_000001.10:g.46663405G>A
• NR_024332.1:n.740C>T

This HGVS expression did not pass validation

Protein change:

T30I

Molecular consequence:

• NM_001243766.2:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410783.1:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]