ClinVar

NM_000169.3(GLA):c.129C>T (p.Gly43=)

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: 101407775 (on Assembly GRCh38)
• ChrX: 100662763 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.129C>T (p.Gly43=)

HGVS:

• NC_000023.11:g.101407775G>A
• NG_007119.1:g.5189C>T
• NG_016327.1:g.4573G>A
• NM_000169.3:c.129C>TMANE SELECT
• NM_001199973.2:c.301-4161G>A
• NM_001199974.2:c.178-4161G>A
• NM_001406747.1:c.129C>T
• NM_001406748.1:c.129C>T
• NM_001406749.1:c.129C>T
• NP_000160.1:p.Gly43=
• NP_000160.1:p.Gly43=
• NP_001393676.1:p.Gly43=
• NP_001393677.1:p.Gly43=
• NP_001393678.1:p.Gly43=
• LRG_672t1:c.129C>T
• LRG_672:g.5189C>T
• LRG_672p1:p.Gly43=
• NC_000023.10:g.100662763G>A
• NM_000169.2:c.129C>T
• NR_164783.1:n.151C>T
• NR_176252.1:n.151C>T
• NR_176253.1:n.151C>T
• c.129C>T
• p.G43G
• p.Gly43Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs146177035

NCBI 1000 Genomes Browser:

rs146177035

Molecular consequence:

• NM_001199973.2:c.301-4161G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.178-4161G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_164783.1:n.151C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176252.1:n.151C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176253.1:n.151C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000169.3:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406747.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406748.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001406749.1:c.129C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1