ClinVar

NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100988457 (on Assembly GRCh38)
• Chr10: 102748214 (on Assembly GRCh37)

Preferred name:

NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)

HGVS:

• NC_000010.11:g.100988457C>T
• NG_011646.1:g.4059G>A
• NG_012624.1:g.5922C>T
• NM_001163812.2:c.247C>T
• NM_001163813.2:c.-120+844C>T
• NM_001163814.2:c.-120+844C>T
• NM_001368275.1:c.-58+844C>T
• NM_021830.5:c.247C>TMANE SELECT
• NP_001157284.1:p.Pro83Ser
• NP_068602.2:p.Pro83Ser
• NC_000010.10:g.102748214C>T
• NM_021830.4:c.247C>T
• NR_160738.1:n.915C>T
• NR_160740.1:n.915C>T
• NR_160741.1:n.915C>T
• NR_160742.1:n.915C>T

This HGVS expression did not pass validation

Protein change:

P83S

Links:

dbSNP: rs386834147

NCBI 1000 Genomes Browser:

rs386834147

Molecular consequence:

• NM_001163813.2:c.-120+844C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163814.2:c.-120+844C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368275.1:c.-58+844C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163812.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021830.5:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160738.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160740.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160741.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160742.1:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]