ClinVar

NM_001199973.2(RPL36A-HNRNPH2):c.300+6148G>A

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: 101401605 (on Assembly GRCh38)
• ChrX: 100656593 (on Assembly GRCh37)

Preferred name:

NM_001199973.2(RPL36A-HNRNPH2):c.300+6148G>A

HGVS:

• NC_000023.11:g.101401605G>A
• NG_007119.1:g.11359C>T
• NM_000169.3:c.547+27C>TMANE SELECT
• NM_001199973.2:c.300+6148G>A
• NM_001199974.2:c.177+9783G>A
• NM_001406747.1:c.670+27C>T
• NM_001406748.1:c.547+27C>T
• NM_001406749.1:c.697C>T
• NP_001393678.1:p.His233Tyr
• LRG_672:g.11359C>T
• NC_000023.10:g.100656593G>A
• NM_001199973.1:c.408+6148G>A

This HGVS expression did not pass validation

Protein change:

H233Y

Molecular consequence:

• NM_000169.3:c.547+27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199973.2:c.300+6148G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199974.2:c.177+9783G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406747.1:c.670+27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406748.1:c.547+27C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001406749.1:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]