View genomic variant #0000000944

Chromosome 3
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.49059895G>C
Published as -
GERP 3.630
Segregation -
DB-ID NDUFAF3_000004
MSCV MSCV_0000944
dbSNP ID NA
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

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
NDUFAF3 00000951 NM_199069.1 0000000944 ./. - 2/5 c.194G>C p.(=) benign(0.062) missense_variant - tolerated(0.56)
NDUFAF3 00000952 NM_199070.1 0000000944 ./. - 2/5 c.23G>C p.(Ser8Thr) benign(0.062) missense_variant - tolerated(0.65)
NDUFAF3 00000950 NM_199073.1 0000000944 ./. - 2/5 c.23G>C p.(Ser8Thr) benign(0.062) missense_variant - tolerated(0.65)
NDUFAF3 00000949 NM_199074.1 0000000944 ./. - 2/5 c.23G>C p.(Ser8Thr) benign(0.062) missense_variant - tolerated(0.65)
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None