ClinVar

NM_000169.3(GLA):c.852G>A (p.Met284Ile)

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: 101398517 (on Assembly GRCh38)
• ChrX: 100653505 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.852G>A (p.Met284Ile)

HGVS:

• NC_000023.11:g.101398517C>T
• NG_007119.1:g.14447G>A
• NM_000169.3:c.852G>AMANE SELECT
• NM_001199973.2:c.300+3060C>T
• NM_001199974.2:c.177+6695C>T
• NM_001406747.1:c.975G>A
• NM_001406748.1:c.852G>A
• NP_000160.1:p.Met284Ile
• NP_000160.1:p.Met284Ile
• NP_001393676.1:p.Met325Ile
• NP_001393677.1:p.Met284Ile
• LRG_672t1:c.852G>A
• LRG_672:g.14447G>A
• LRG_672p1:p.Met284Ile
• NC_000023.10:g.100653505C>T
• NM_000169.2:c.852G>A
• NR_164783.1:n.931G>A
• NR_176252.1:n.782G>A
• NR_176253.1:n.989G>A

This HGVS expression did not pass validation

Protein change:

M284I

Molecular consequence:

• NM_001199973.2:c.300+3060C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+6695C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000169.3:c.852G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406747.1:c.975G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406748.1:c.852G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_164783.1:n.931G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176252.1:n.782G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176253.1:n.989G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1