ClinVar

NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)

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: 46196784 (on Assembly GRCh38)
• Chr1: 46662456 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)

HGVS:

• NC_000001.11:g.46196784C>T
• NG_009205.3:g.28522G>A
• NM_001243766.2:c.301G>A
• NM_001290129.2:c.235G>A
• NM_001290130.2:c.-129G>A
• NM_017739.4:c.301G>AMANE SELECT
• NP_001230695.1:p.Val101Ile
• NP_001230695.2:p.Val101Ile
• NP_001277058.2:p.Val79Ile
• NP_060209.3:p.Val101Ile
• NP_060209.3:p.Val101Ile
• NP_060209.4:p.Val101Ile
• LRG_701t1:c.301G>A
• LRG_701t2:c.301G>A
• LRG_701:g.28522G>A
• LRG_701p1:p.Val101Ile
• LRG_701p2:p.Val101Ile
• NC_000001.10:g.46662456C>T
• NG_009205.2:g.28522G>A
• NM_001243766.1:c.301G>A
• NM_017739.3:c.301G>A

This HGVS expression did not pass validation

Protein change:

V101I

Links:

dbSNP: rs150576537

NCBI 1000 Genomes Browser:

rs150576537

Molecular consequence:

• NM_001290130.2:c.-129G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001243766.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290129.2:c.235G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

8