ClinVar

NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154420239 (on Assembly GRCh38)
• ChrX: 153648578 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)

Other names:

p.P225L:CCG>CTG

HGVS:

• NC_000023.11:g.154420239C>T
• NG_009634.2:g.13705C>T
• NM_000116.5:c.674C>TMANE SELECT
• NM_001303465.2:c.686C>T
• NM_181311.4:c.584C>T
• NM_181312.4:c.632C>T
• NM_181313.4:c.542C>T
• NP_000107.1:p.Pro225Leu
• NP_001290394.1:p.Pro229Leu
• NP_851828.1:p.Pro195Leu
• NP_851829.1:p.Pro211Leu
• NP_851830.1:p.Pro181Leu
• LRG_131t1:c.674C>T
• LRG_131:g.13705C>T
• LRG_131p1:p.Pro225Leu
• NC_000023.10:g.153648578C>T
• NG_009634.1:g.13702C>T
• NM_000116.3:c.674C>T
• NM_000116.4:c.674C>T
• NR_024048.3:n.995C>T

This HGVS expression did not pass validation

Protein change:

P181L

Links:

dbSNP: rs375151766

NCBI 1000 Genomes Browser:

rs375151766

Molecular consequence:

• NM_000116.5:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303465.2:c.686C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181311.4:c.584C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181312.4:c.632C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181313.4:c.542C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_024048.3:n.995C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]