ClinVar

NM_000169.3(GLA):c.640-133G>A

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101399079 (on Assembly GRCh38)
• ChrX: 100654067 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.640-133G>A

HGVS:

• NC_000023.11:g.101399079C>T
• NG_007119.1:g.13885G>A
• NM_000169.3:c.640-133G>AMANE SELECT
• NM_001199973.2:c.300+3622C>T
• NM_001199974.2:c.177+7257C>T
• NM_001406747.1:c.763-133G>A
• NM_001406748.1:c.640-133G>A
• LRG_672:g.13885G>A
• NC_000023.10:g.100654067C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2147473679

NCBI 1000 Genomes Browser:

rs2147473679

Molecular consequence:

• NM_000169.3:c.640-133G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199973.2:c.300+3622C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+7257C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406747.1:c.763-133G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406748.1:c.640-133G>A - intron variant - [Sequence Ontology: SO:0001627]