View genomic variant #0000002351

Chromosome 15
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.89860013G>A
Published as -
GERP 5.950
Segregation -
DB-ID FANCI_000001
dbSNP ID -
Frequency -
Sources ; POLG_MUT_DB;
Reference -
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
POLG NM_001126131.1 +?/+? - 23/23 c.3689C>T - r.(?) p.(Ser1230Phe) probably_damaging(0.98) missense_variant - deleterious(0)
POLG NM_002693.2 +?/+? - 23/23 c.3689C>T - r.(?) p.(Ser1230Phe) probably_damaging(0.98) missense_variant - deleterious(0)
FANCI NM_018193.2 +?/+? - - c.*323G>A - r.(=) p.(=) - - - -


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None