ClinVar

NM_000169.3(GLA):c.899T>C (p.Leu300Pro)

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: 101398470 (on Assembly GRCh38)
• ChrX: 100653458 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.899T>C (p.Leu300Pro)

HGVS:

• NC_000023.11:g.101398470A>G
• NG_007119.1:g.14494T>C
• NM_000169.3:c.899T>CMANE SELECT
• NM_001199973.2:c.300+3013A>G
• NM_001199974.2:c.177+6648A>G
• NP_000160.1:p.Leu300Pro
• NP_000160.1:p.Leu300Pro
• LRG_672t1:c.899T>C
• LRG_672:g.14494T>C
• LRG_672p1:p.Leu300Pro
• NC_000023.10:g.100653458A>G
• NM_000169.2:c.899T>C
• NR_164783.1:n.978T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs398123223

NCBI 1000 Genomes Browser:

rs398123223

Molecular consequence:

• NM_001199973.2:c.300+3013A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+6648A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000169.3:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_164783.1:n.978T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2