ClinVar

NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys)

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: 46196817 (on Assembly GRCh38)
• Chr1: 46662489 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys)

Other names:

p.Arg90Cys

HGVS:

• NC_000001.11:g.46196817G>A
• NG_009205.3:g.28489C>T
• NM_001243766.2:c.268C>T
• NM_001290129.2:c.202C>T
• NM_001290130.2:c.-162C>T
• NM_017739.4:c.268C>TMANE SELECT
• NP_001230695.2:p.Arg90Cys
• NP_001277058.2:p.Arg68Cys
• NP_060209.3:p.Arg90Cys
• NP_060209.4:p.Arg90Cys
• LRG_701t1:c.268C>T
• LRG_701t2:c.268C>T
• LRG_701:g.28489C>T
• LRG_701p1:p.Arg90Cys
• LRG_701p2:p.Arg90Cys
• NC_000001.10:g.46662489G>A
• NG_009205.2:g.28489C>T
• NM_017739.3:c.268C>T

This HGVS expression did not pass validation

Protein change:

R68C

Links:

dbSNP: rs144959783

NCBI 1000 Genomes Browser:

rs144959783

Molecular consequence:

• NM_001290130.2:c.-162C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001243766.2:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290129.2:c.202C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.268C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4