ClinVar

NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154420715 (on Assembly GRCh38)
• ChrX: 153649054 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)

Other names:

p.Arg253Trp

HGVS:

• NC_000023.11:g.154420715C>T
• NG_009634.2:g.14181C>T
• NM_000116.5:c.757C>TMANE SELECT
• NM_001303465.2:c.769C>T
• NM_181311.4:c.667C>T
• NM_181312.4:c.715C>T
• NM_181313.4:c.625C>T
• NP_000107.1:p.Arg253Trp
• NP_001290394.1:p.Arg257Trp
• NP_851828.1:p.Arg223Trp
• NP_851829.1:p.Arg239Trp
• NP_851830.1:p.Arg209Trp
• LRG_131t1:c.757C>T
• LRG_131:g.14181C>T
• LRG_131p1:p.Arg253Trp
• NC_000023.10:g.153649054C>T
• NG_009634.1:g.14178C>T
• NM_000116.4:c.757C>T
• NR_024048.3:n.1078C>T

This HGVS expression did not pass validation

Protein change:

R209W

Links:

dbSNP: rs2068605582

NCBI 1000 Genomes Browser:

rs2068605582

Molecular consequence:

• NM_000116.5:c.757C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303465.2:c.769C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181311.4:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181312.4:c.715C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181313.4:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_024048.3:n.1078C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2