ClinVar

NM_021830.5(TWNK):c.1380C>T (p.Ala460=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100989780 (on Assembly GRCh38)
• Chr10: 102749537 (on Assembly GRCh37)

Preferred name:

NM_021830.5(TWNK):c.1380C>T (p.Ala460=)

HGVS:

• NC_000010.11:g.100989780C>T
• NG_011646.1:g.2736G>A
• NG_012624.1:g.7245C>T
• NM_001163812.2:c.1380C>T
• NM_001163813.2:c.18C>T
• NM_001163814.2:c.18C>T
• NM_001368275.1:c.18C>T
• NM_021830.5:c.1380C>TMANE SELECT
• NP_001157284.1:p.Ala460=
• NP_001157285.1:p.Ala6=
• NP_001157286.1:p.Ala6=
• NP_001355204.1:p.Ala6=
• NP_068602.2:p.Ala460=
• NP_068602.2:p.Ala460=
• NC_000010.10:g.102749537C>T
• NM_021830.3:c.1380C>T
• NR_160738.1:n.2048C>T
• NR_160739.1:n.208C>T
• NR_160740.1:n.1986C>T
• NR_160741.1:n.1986C>T
• NR_160742.1:n.1986C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_160738.1:n.2048C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160739.1:n.208C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160740.1:n.1986C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160741.1:n.1986C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160742.1:n.1986C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001163812.2:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163813.2:c.18C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163814.2:c.18C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368275.1:c.18C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021830.5:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]