ClinVar

NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)

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: 46195819 (on Assembly GRCh38)
• Chr1: 46661491 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro)

Other names:

NM_017739.4(POMGNT1):c.526A>C

HGVS:

• NC_000001.11:g.46195819T>G
• NG_009205.3:g.29487A>C
• NM_001243766.2:c.526A>C
• NM_001290129.2:c.460A>C
• NM_001290130.2:c.97A>C
• NM_017739.4:c.526A>CMANE SELECT
• NP_001230695.2:p.Thr176Pro
• NP_001277058.2:p.Thr154Pro
• NP_001277059.2:p.Thr33Pro
• NP_060209.3:p.Thr176Pro
• NP_060209.4:p.Thr176Pro
• LRG_701t1:c.526A>C
• LRG_701t2:c.526A>C
• LRG_701:g.29487A>C
• LRG_701p1:p.Thr176Pro
• LRG_701p2:p.Thr176Pro
• NC_000001.10:g.46661491T>G
• NG_009205.2:g.29487A>C
• NM_017739.3:c.526A>C
• Q8WZA1:p.Thr176Pro

This HGVS expression did not pass validation

Protein change:

T154P

Links:

UniProtKB: Q8WZA1#VAR_065021; dbSNP: rs386834030

NCBI 1000 Genomes Browser:

rs386834030

Molecular consequence:

• NM_001243766.2:c.526A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290129.2:c.460A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290130.2:c.97A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.526A>C - missense variant - [Sequence Ontology: SO:0001583]