ClinVar

NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154420074 (on Assembly GRCh38)
• ChrX: 153648413 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)

HGVS:

• NC_000023.11:g.154420074T>A
• NG_009634.2:g.13540T>A
• NG_147842.1:g.587T>A
• NG_147843.1:g.85T>A
• NM_000116.5:c.626T>AMANE SELECT
• NM_001303465.2:c.638T>A
• NM_001410698.1:c.590T>A
• NM_181311.4:c.536T>A
• NM_181312.4:c.584T>A
• NM_181313.4:c.494T>A
• NP_000107.1:p.Ile209Asn
• NP_001290394.1:p.Ile213Asn
• NP_001397627.1:p.Ile197Asn
• NP_851828.1:p.Ile179Asn
• NP_851829.1:p.Ile195Asn
• NP_851830.1:p.Ile165Asn
• LRG_131t1:c.626T>A
• LRG_131:g.13540T>A
• LRG_131p1:p.Ile209Asn
• NC_000023.10:g.153648413T>A
• NR_024048.3:n.947T>A

This HGVS expression did not pass validation

Protein change:

I165N

Molecular consequence:

• NM_000116.5:c.626T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001303465.2:c.638T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410698.1:c.590T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181311.4:c.536T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181312.4:c.584T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181313.4:c.494T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_024048.3:n.947T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2