ClinVar

NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154420719 (on Assembly GRCh38)
• ChrX: 153649058 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)

HGVS:

• NC_000023.11:g.154420719C>T
• NG_009634.2:g.14185C>T
• NM_000116.5:c.761C>TMANE SELECT
• NM_001303465.2:c.773C>T
• NM_181311.4:c.671C>T
• NM_181312.4:c.719C>T
• NM_181313.4:c.629C>T
• NP_000107.1:p.Ala254Val
• NP_001290394.1:p.Ala258Val
• NP_851828.1:p.Ala224Val
• NP_851829.1:p.Ala240Val
• NP_851830.1:p.Ala210Val
• LRG_131t1:c.761C>T
• LRG_131:g.14185C>T
• LRG_131p1:p.Ala254Val
• NC_000023.10:g.153649058C>T
• NG_009634.1:g.14182C>T
• NM_000116.3:c.761C>T
• NM_000116.4:c.761C>T
• NR_024048.3:n.1082C>T

This HGVS expression did not pass validation

Protein change:

A210V

Links:

dbSNP: rs200909606

NCBI 1000 Genomes Browser:

rs200909606

Molecular consequence:

• NM_000116.5:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303465.2:c.773C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181311.4:c.671C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181312.4:c.719C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181313.4:c.629C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_024048.3:n.1082C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]