ClinVar

NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 154413220 (on Assembly GRCh38)
• ChrX: 153641557 (on Assembly GRCh37)

Preferred name:

NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)

HGVS:

• NC_000023.11:g.154413220C>T
• NG_009634.2:g.6686C>T
• NG_012884.2:g.3869G>A
• NM_000116.5:c.252C>TMANE SELECT
• NM_001303465.2:c.306C>T
• NM_001410698.1:c.306C>T
• NM_181311.4:c.252C>T
• NM_181312.4:c.252C>T
• NM_181313.4:c.252C>T
• NP_000107.1:p.Leu84=
• NP_001290394.1:p.Leu102=
• NP_001397627.1:p.Leu102=
• NP_851828.1:p.Leu84=
• NP_851829.1:p.Leu84=
• NP_851830.1:p.Leu84=
• LRG_131t1:c.252C>T
• LRG_131:g.6686C>T
• LRG_131p1:p.Leu84=
• NC_000023.10:g.153641557C>T
• NR_024048.3:n.557C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_024048.3:n.557C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000116.5:c.252C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001303465.2:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410698.1:c.306C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181311.4:c.252C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181312.4:c.252C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181313.4:c.252C>T - synonymous variant - [Sequence Ontology: SO:0001819]