ClinVar

NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)

Gene:

TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100989285 (on Assembly GRCh38)
• Chr10: 102749042 (on Assembly GRCh37)

Preferred name:

NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)

HGVS:

• NC_000010.11:g.100989285G>A
• NG_011646.1:g.3231C>T
• NG_012624.1:g.6750G>A
• NM_001163812.2:c.1075G>A
• NM_001163813.2:c.-119-359G>A
• NM_001163814.2:c.-119-359G>A
• NM_001368275.1:c.-57-421G>A
• NM_021830.5:c.1075G>AMANE SELECT
• NP_001157284.1:p.Ala359Thr
• NP_068602.2:p.Ala359Thr
• NC_000010.10:g.102749042G>A
• NM_021830.4:c.1075G>A
• NR_160738.1:n.1743G>A
• NR_160740.1:n.1743G>A
• NR_160741.1:n.1743G>A
• NR_160742.1:n.1743G>A
• Q96RR1:p.Ala359Thr

This HGVS expression did not pass validation

Protein change:

A359T; ALA359THR

Links:

UniProtKB: Q96RR1#VAR_023654; OMIM: 606075.0003; dbSNP: rs111033573

NCBI 1000 Genomes Browser:

rs111033573

Molecular consequence:

• NM_001163813.2:c.-119-359G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163814.2:c.-119-359G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368275.1:c.-57-421G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163812.2:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021830.5:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_160738.1:n.1743G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160740.1:n.1743G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160741.1:n.1743G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160742.1:n.1743G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2