ClinVar

NM_000169.3(GLA):c.142G>C (p.Glu48Gln)

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: 101407762 (on Assembly GRCh38)
• ChrX: 100662750 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.142G>C (p.Glu48Gln)

HGVS:

• NC_000023.11:g.101407762C>G
• NG_007119.1:g.5202G>C
• NG_016327.1:g.4560C>G
• NM_000169.3:c.142G>CMANE SELECT
• NM_001199973.2:c.301-4174C>G
• NM_001199974.2:c.178-4174C>G
• NM_001406747.1:c.142G>C
• NM_001406748.1:c.142G>C
• NM_001406749.1:c.142G>C
• NP_000160.1:p.Glu48Gln
• NP_000160.1:p.Glu48Gln
• NP_001393676.1:p.Glu48Gln
• NP_001393677.1:p.Glu48Gln
• NP_001393678.1:p.Glu48Gln
• LRG_672t1:c.142G>C
• LRG_672:g.5202G>C
• LRG_672p1:p.Glu48Gln
• NC_000023.10:g.100662750C>G
• NM_000169.2:c.142G>C
• NR_164783.1:n.164G>C
• NR_176252.1:n.164G>C
• NR_176253.1:n.164G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs398123204

NCBI 1000 Genomes Browser:

rs398123204

Molecular consequence:

• NM_001199973.2:c.301-4174C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.178-4174C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000169.3:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406747.1:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406748.1:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406749.1:c.142G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_164783.1:n.164G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176252.1:n.164G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176253.1:n.164G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]