ClinVar

NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)

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: 46193338 (on Assembly GRCh38)
• Chr1: 46659010 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1077T>C (p.Thr359=)

HGVS:

• NC_000001.11:g.46193338A>G
• NG_009205.3:g.31968T>C
• NM_001243766.2:c.1077T>C
• NM_001290129.2:c.1011T>C
• NM_001290130.2:c.648T>C
• NM_017739.4:c.1077T>CMANE SELECT
• NP_001230695.2:p.Thr359=
• NP_001277058.2:p.Thr337=
• NP_001277059.2:p.Thr216=
• NP_060209.4:p.Thr359=
• LRG_701t1:c.1077T>C
• LRG_701t2:c.1077T>C
• LRG_701:g.31968T>C
• LRG_701p1:p.Thr359=
• LRG_701p2:p.Thr359=
• NC_000001.10:g.46659010A>G
• NG_009205.2:g.31968T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886042244

NCBI 1000 Genomes Browser:

rs886042244

Molecular consequence:

• NM_001243766.2:c.1077T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290129.2:c.1011T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290130.2:c.648T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017739.4:c.1077T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1