ClinVar

NM_000169.3(GLA):c.916C>T (p.Gln306Ter)

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: 101398453 (on Assembly GRCh38)
• ChrX: 100653441 (on Assembly GRCh37)

Preferred name:

NM_000169.3(GLA):c.916C>T (p.Gln306Ter)

HGVS:

• NC_000023.11:g.101398453G>A
• NG_007119.1:g.14511C>T
• NM_000169.3:c.916C>TMANE SELECT
• NM_001199973.2:c.300+2996G>A
• NM_001199974.2:c.177+6631G>A
• NM_001406747.1:c.1039C>T
• NM_001406748.1:c.916C>T
• NP_000160.1:p.Gln306Ter
• NP_000160.1:p.Gln306Ter
• NP_001393676.1:p.Gln347Ter
• NP_001393677.1:p.Gln306Ter
• LRG_672t1:c.916C>T
• LRG_672:g.14511C>T
• LRG_672p1:p.Gln306Ter
• NC_000023.10:g.100653441G>A
• NM_000169.2:c.916C>T
• NR_164783.1:n.995C>T
• NR_176252.1:n.846C>T
• NR_176253.1:n.1053C>T

This HGVS expression did not pass validation

Protein change:

Q306*

Links:

dbSNP: rs797044768

NCBI 1000 Genomes Browser:

rs797044768

Molecular consequence:

• NM_001199973.2:c.300+2996G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+6631G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_164783.1:n.995C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176252.1:n.846C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_176253.1:n.1053C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000169.3:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406747.1:c.1039C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001406748.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1