ClinVar

NM_017739.4(POMGNT1):c.1212-81C>T

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: 46192671 (on Assembly GRCh38)
• Chr1: 46658343 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1212-81C>T

HGVS:

• NC_000001.11:g.46192671G>A
• NG_009205.3:g.32635C>T
• NM_001243766.2:c.1212-81C>T
• NM_001290129.2:c.1146-81C>T
• NM_001290130.2:c.783-81C>T
• NM_017739.4:c.1212-81C>TMANE SELECT
• LRG_701t1:c.1212-81C>T
• LRG_701t2:c.1212-81C>T
• LRG_701:g.32635C>T
• NC_000001.10:g.46658343G>A
• NG_009205.2:g.32635C>T
• NM_017739.3:c.1212-81C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2292485

NCBI 1000 Genomes Browser:

rs2292485

Molecular consequence:

• NM_001243766.2:c.1212-81C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290129.2:c.1146-81C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290130.2:c.783-81C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_017739.4:c.1212-81C>T - intron variant - [Sequence Ontology: SO:0001627]