View genomic variant #0000004017

Chromosome M
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) m.14203A>G
Published as -
GERP -8.090
Segregation -
DB-ID chrM_000550
MSCV MSCV_0004017
dbSNP ID rs34657896
Frequency -
Sources ;
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.
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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 0000004017 ?/? - . c.471T>C p.G157G - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None