ClinVar

NM_017739.4(POMGNT1):c.1895+1G>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: 46189457 (on Assembly GRCh38)
• Chr1: 46655129 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1895+1G>T

HGVS:

• NC_000001.11:g.46189457C>A
• NG_009205.3:g.35849G>T
• NM_001243766.2:c.1869+27G>T
• NM_001290129.2:c.1829+1G>T
• NM_001290130.2:c.1466+1G>T
• NM_001410783.1:c.1895+1G>T
• NM_017739.4:c.1895+1G>TMANE SELECT
• LRG_701t1:c.1869+27G>T
• LRG_701t2:c.1895+1G>T
• LRG_701:g.35849G>T
• NC_000001.10:g.46655129C>A
• NM_001290129.1:c.1829+1G>T
• NM_017739.3:c.1895+1G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs386834024

NCBI 1000 Genomes Browser:

rs386834024

Molecular consequence:

• NM_001243766.2:c.1869+27G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290129.2:c.1829+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001290130.2:c.1466+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001410783.1:c.1895+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_017739.4:c.1895+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1