ClinVar

NM_017739.4(POMGNT1):c.1649+2T>G

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: 46190471 (on Assembly GRCh38)
• Chr1: 46656143 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1649+2T>G

HGVS:

• NC_000001.11:g.46190471A>C
• NG_009205.3:g.34835T>G
• NM_001243766.2:c.1649+2T>G
• NM_001290129.2:c.1583+2T>G
• NM_001290130.2:c.1220+2T>G
• NM_001410783.1:c.1649+2T>G
• NM_017739.4:c.1649+2T>GMANE SELECT
• LRG_701t1:c.1649+2T>G
• LRG_701t2:c.1649+2T>G
• LRG_701:g.34835T>G
• NC_000001.10:g.46656143A>C
• NM_017739.3:c.1649+2T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1268759044

NCBI 1000 Genomes Browser:

rs1268759044

Molecular consequence:

• NM_001243766.2:c.1649+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001290129.2:c.1583+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001290130.2:c.1220+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001410783.1:c.1649+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_017739.4:c.1649+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]