ClinVar

NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)

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: 46194354 (on Assembly GRCh38)
• Chr1: 46660026 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)

HGVS:

• NC_000001.11:g.46194354G>A
• NG_009205.3:g.30952C>T
• NM_001243766.2:c.799C>T
• NM_001290129.2:c.733C>T
• NM_001290130.2:c.370C>T
• NM_017739.4:c.799C>TMANE SELECT
• NP_001230695.2:p.Arg267Cys
• NP_001277058.2:p.Arg245Cys
• NP_001277059.2:p.Arg124Cys
• NP_060209.4:p.Arg267Cys
• LRG_701t1:c.799C>T
• LRG_701t2:c.799C>T
• LRG_701:g.30952C>T
• LRG_701p1:p.Arg267Cys
• LRG_701p2:p.Arg267Cys
• NC_000001.10:g.46660026G>A
• NG_009205.2:g.30952C>T
• NM_017739.3:c.799C>T

This HGVS expression did not pass validation

Protein change:

R124C

Links:

dbSNP: rs148131756

NCBI 1000 Genomes Browser:

rs148131756

Molecular consequence:

• NM_001243766.2:c.799C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290129.2:c.733C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290130.2:c.370C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.799C>T - missense variant - [Sequence Ontology: SO:0001583]