View genomic variant #0000004062

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.14668C>T
Published as -
GERP -8.300
Segregation -
DB-ID chrM_000439
MSCV MSCV_0004062
dbSNP ID rs28357678
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-ND6 00001348 MT-ND6-201 0000004062 +?/+? - . c.6G>A p.M2M - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

LocusDiseaseAlleleAmino_Acid_ChangeHomoplasmyHeteroplasmySTATUSNote
MT-ND6MDD-associatedC14668Tsyn+-ReportedCoding_and_Control_Region

Ensembl Variant Phenotype Information:

None