View genomic variant #0000004937

Chromosome M
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.8795A>G
Published as -
GERP 4.900
Segregation -
DB-ID chrM_001382
MSCV MSCV_0004937
dbSNP ID -
Frequency -
Sources ; Mitomap;
Reference -
Variant remarks -
Genetic origin -
Variant_disease -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
MT-ATP6 00001337 MT-ATP6-201 0000004937 +?/+? - . c.269A>G p.H90R - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ATP6MILS protective factorA8795GH-R-+ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None