ClinVar

NM_017739.4(POMGNT1):c.1284+9G>C

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: 46192509 (on Assembly GRCh38)
• Chr1: 46658181 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1284+9G>C

HGVS:

• NC_000001.11:g.46192509C>G
• NG_009205.3:g.32797G>C
• NM_001243766.2:c.1284+9G>C
• NM_001290129.2:c.1218+9G>C
• NM_001290130.2:c.855+9G>C
• NM_017739.4:c.1284+9G>CMANE SELECT
• LRG_701t1:c.1284+9G>C
• LRG_701t2:c.1284+9G>C
• LRG_701:g.32797G>C
• NC_000001.10:g.46658181C>G
• NG_009205.2:g.32797G>C
• NM_001243766.1:c.1284+9G>C
• NM_017739.3:c.1284+9G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs565797493

NCBI 1000 Genomes Browser:

rs565797493

Molecular consequence:

• NM_001243766.2:c.1284+9G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290129.2:c.1218+9G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001290130.2:c.855+9G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_017739.4:c.1284+9G>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

2