ClinVar

NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)

Genes:

POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 46196059 (on Assembly GRCh38)
• Chr1: 46661731 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.373C>T (p.Arg125Trp)

HGVS:

• NC_000001.11:g.46196059G>A
• NG_009205.3:g.29247C>T
• NM_001243766.2:c.373C>T
• NM_001290129.2:c.307C>T
• NM_001290130.2:c.-57C>T
• NM_001410783.1:c.373C>T
• NM_017739.3:c.373C>T
• NM_017739.4:c.373C>TMANE SELECT
• NP_001230695.2:p.Arg125Trp
• NP_001277058.2:p.Arg103Trp
• NP_001397712.1:p.Arg125Trp
• NP_060209.4:p.Arg125Trp
• LRG_701t1:c.373C>T
• LRG_701t2:c.373C>T
• LRG_701:g.29247C>T
• LRG_701p1:p.Arg125Trp
• LRG_701p2:p.Arg125Trp
• NC_000001.10:g.46661731G>A
• NR_024332.1:n.1024C>T

This HGVS expression did not pass validation

Protein change:

R103W

Molecular consequence:

• NM_001290130.2:c.-57C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001243766.2:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290129.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410783.1:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]