ClinVar

NM_000169.3(GLA):c.1000-22C>T

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: 101398121 (on Assembly GRCh38)
• ChrX: 100653109 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.1000-22C>T

HGVS:

• NC_000023.11:g.101398121G>A
• NG_007119.1:g.14843C>T
• NM_000169.3:c.1000-22C>TMANE SELECT
• NM_001199973.2:c.300+2664G>A
• NM_001199974.2:c.177+6299G>A
• NM_001406747.1:c.1123-22C>T
• LRG_672t1:c.1000-22C>T
• LRG_672:g.14843C>T
• NC_000023.10:g.100653109G>A
• NM_000169.2:c.1000-22C>T
• p.?

This HGVS expression did not pass validation

Links:

dbSNP: rs2071228

NCBI 1000 Genomes Browser:

rs2071228

Molecular consequence:

• NM_000169.3:c.1000-22C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199973.2:c.300+2664G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+6299G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406747.1:c.1123-22C>T - intron variant - [Sequence Ontology: SO:0001627]