ClinVar

NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154420693 (on Assembly GRCh38)
• ChrX: 153649032 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)

HGVS:

• NC_000023.11:g.154420693C>T
• NG_009634.2:g.14159C>T
• NM_000116.5:c.735C>TMANE SELECT
• NM_001303465.2:c.747C>T
• NM_001410698.1:c.699C>T
• NM_181311.4:c.645C>T
• NM_181312.4:c.693C>T
• NM_181313.4:c.603C>T
• NP_000107.1:p.Ala245=
• NP_001290394.1:p.Ala249=
• NP_001397627.1:p.Ala233=
• NP_851828.1:p.Ala215=
• NP_851829.1:p.Ala231=
• NP_851830.1:p.Ala201=
• LRG_131t1:c.735C>T
• LRG_131:g.14159C>T
• LRG_131p1:p.Ala245=
• NC_000023.10:g.153649032C>T
• NR_024048.3:n.1056C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_024048.3:n.1056C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000116.5:c.735C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001303465.2:c.747C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410698.1:c.699C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181311.4:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181312.4:c.693C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181313.4:c.603C>T - synonymous variant - [Sequence Ontology: SO:0001819]