ClinVar

NM_021830.5(TWNK):c.309C>T (p.Phe103=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100988519 (on Assembly GRCh38)
• Chr10: 102748276 (on Assembly GRCh37)

Preferred name:

NM_021830.5(TWNK):c.309C>T (p.Phe103=)

HGVS:

• NC_000010.11:g.100988519C>T
• NG_011646.1:g.3997G>A
• NG_012624.1:g.5984C>T
• NM_001163812.2:c.309C>T
• NM_001163813.2:c.-120+906C>T
• NM_001163814.2:c.-120+906C>T
• NM_001368275.1:c.-58+906C>T
• NM_021830.5:c.309C>TMANE SELECT
• NP_001157284.1:p.Phe103=
• NP_068602.2:p.Phe103=
• NP_068602.2:p.Phe103=
• NC_000010.10:g.102748276C>T
• NM_021830.3:c.309C>T
• NR_160738.1:n.977C>T
• NR_160740.1:n.977C>T
• NR_160741.1:n.977C>T
• NR_160742.1:n.977C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001163813.2:c.-120+906C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001163814.2:c.-120+906C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368275.1:c.-58+906C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_160738.1:n.977C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160740.1:n.977C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160741.1:n.977C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_160742.1:n.977C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001163812.2:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021830.5:c.309C>T - synonymous variant - [Sequence Ontology: SO:0001819]