ClinVar

NM_000116.5(TAFAZZIN):c.238+2T>G

Gene:

TAFAZZIN:tafazzin, phospholipid-lysophospholipid transacylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154412216 (on Assembly GRCh38)
• ChrX: 153640553 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.238+2T>G

HGVS:

• NC_000023.11:g.154412216T>G
• NG_009634.2:g.5682T>G
• NG_012884.2:g.4873A>C
• NM_000116.5:c.238+2T>GMANE SELECT
• NM_001303465.2:c.292+2T>G
• NM_001410698.1:c.292+2T>G
• NM_181311.4:c.238+2T>G
• NM_181312.4:c.238+2T>G
• NM_181313.4:c.238+2T>G
• LRG_131t1:c.238+2T>G
• LRG_131:g.5682T>G
• NC_000023.10:g.153640553T>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_000116.5:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001303465.2:c.292+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001410698.1:c.292+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_181311.4:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_181312.4:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_181313.4:c.238+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

3