ClinVar

NM_017739.4(POMGNT1):c.1867= (p.Met623=)

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: 46189486 (on Assembly GRCh38)
• Chr1: 46655158 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1867= (p.Met623=)

HGVS:

• NC_000001.11:g.46189486=
• NG_009205.3:g.35820=
• NM_001243766.2:c.1867=
• NM_001290129.2:c.1801=
• NM_001290130.2:c.1438=
• NM_017739.4:c.1867=MANE SELECT
• NP_001230695.2:p.Met623=
• NP_001277058.2:p.Met601=
• NP_001277059.2:p.Met480=
• NP_060209.3:p.Val623Met
• NP_060209.4:p.Met623=
• LRG_701t1:c.1867=
• LRG_701t2:c.1867=
• LRG_701:g.35820=
• LRG_701p1:p.Met623=
• LRG_701p2:p.Met623=
• NC_000001.10:g.46655158=
• NG_009205.2:g.35820G>A
• NM_017739.3:c.1867G>A

This HGVS expression did not pass validation

Protein change:

V623M

Links:

dbSNP: rs6659553

NCBI 1000 Genomes Browser:

rs6659553

Molecular consequence:

• NM_001243766.2:c.1867= - no sequence alteration - [Sequence Ontology: SO:0002073]
• NM_001290129.2:c.1801= - no sequence alteration - [Sequence Ontology: SO:0002073]
• NM_001290130.2:c.1438= - no sequence alteration - [Sequence Ontology: SO:0002073]
• NM_017739.4:c.1867= - no sequence alteration - [Sequence Ontology: SO:0002073]