ClinVar

NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)

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: 101398012 (on Assembly GRCh38)
• ChrX: 100653000 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)

HGVS:

• NC_000023.11:g.101398012G>A
• NG_007119.1:g.14952C>T
• NM_000169.2:c.1087C>T
• NM_000169.3:c.1087C>TMANE SELECT
• NM_001199973.2:c.300+2555G>A
• NM_001199974.2:c.177+6190G>A
• NP_000160.1:p.Arg363Cys
• NP_000160.1:p.Arg363Cys
• LRG_672t1:c.1087C>T
• LRG_672:g.14952C>T
• LRG_672p1:p.Arg363Cys
• NC_000023.10:g.100653000G>A
• NM_000169.2(GLA):c.1087C>T
• NR_164783.1:n.1166C>T
• p.Arg363Cys

This HGVS expression did not pass validation

Protein change:

R363C

Links:

dbSNP: rs797044776

NCBI 1000 Genomes Browser:

rs797044776

Molecular consequence:

• NM_001199973.2:c.300+2555G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+6190G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000169.2:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_000169.3:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_164783.1:n.1166C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

5