ClinVar

NM_021830.5(TWNK):c.1449C>T (p.Leu483=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100989849 (on Assembly GRCh38)
• Chr10: 102749606 (on Assembly GRCh37)

Preferred name:

NM_021830.5(TWNK):c.1449C>T (p.Leu483=)

HGVS:

• NC_000010.11:g.100989849C>T
• NG_011646.1:g.2667G>A
• NG_012624.1:g.7314C>T
• NM_001163812.2:c.1449C>T
• NM_001163813.2:c.87C>T
• NM_001163814.2:c.87C>T
• NM_001368275.1:c.87C>T
• NM_021830.5:c.1449C>TMANE SELECT
• NP_001157284.1:p.Leu483=
• NP_001157285.1:p.Leu29=
• NP_001157286.1:p.Leu29=
• NP_001355204.1:p.Leu29=
• NP_068602.2:p.Leu483=
• NC_000010.10:g.102749606C>T
• NR_160738.1:n.2117C>T
• NR_160739.1:n.277C>T
• NR_160740.1:n.2055C>T
• NR_160741.1:n.2055C>T
• NR_160742.1:n.2055C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1851720620

NCBI 1000 Genomes Browser:

rs1851720620

Molecular consequence:

• NR_160738.1:n.2117C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160739.1:n.277C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160740.1:n.2055C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160741.1:n.2055C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160742.1:n.2055C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001163812.2:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163813.2:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001163814.2:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368275.1:c.87C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021830.5:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]