Variant #0000247717 (NC_012920.1:m.8860A>G, MT-ND1(NC_012920.1(ND1_v001)):c.*4598A>G)

Chromosome M
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) m.8860A>G
DNA change (hg38) g.8859C>G
Published as MT-ATP6(NC_012920.1):m.8860A>G (p.T112A)
ISCN -
DB-ID MT-CO1_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MT-ATP6 NC_012920.1(ATP6_v001) -/. - c.334A>G r.(?) p.(Thr112Ala)
MT-CO1 NC_012920.1(COX1_v001) -/. - c.*1415A>G r.(=) p.(=)
MT-ND1 NC_012920.1(ND1_v001) -/. - c.*4598A>G r.(=) p.(=)
MT-ND3 NC_012920.1(ND3_v001) -/. - c.-1199A>G r.(?) p.(=)
MT-ND5 NC_012920.1(ND5_v001) -/. - c.-3477A>G r.(?) p.(=)