Genomic variant #0000000579

Chromosome 15
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.89859994C>A
Published as -
GERP 5.030
Segregation -
DB-ID POLG_000031
dbSNP ID rs3087374
Frequency -
Sources ; clinVar; ensembl; POLG_MUT_DB;
Reference 20301791
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.05955 View details
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.3708G>T - r.(?) p.(Gln1236His) benign(0.004) missense_variant - tolerated(0.16)
POLG NM_002693.2 -/- - 23/23 c.3708G>T - r.(?) p.(Gln1236His) benign(0.004) missense_variant - tolerated(0.16)
FANCI NM_018193.2 -/- - - c.*304C>A - r.(=) p.(=) - - - -


ClinVar @ MSeqDR

0.0596
0.06136
0.0270
34168
MedGen:C0015625,Orphanet:ORPHA84,SNOMED CT:30575002|MedGen:C0751651,Orphanet:ORPHA68380|MedGen:CN169374|MedGen:CN239393
Fanconi anemia|Mitochondrial diseases|not specified|POLG-Related Spectrum Disorders
HGVS variant names NC 000015.9:g.89859994C>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:51251|Illumina Clinical Services Laboratory,Illumina:51266|UniProtKB (protein):P54098#VAR 014911
Gene symbol:Gene id. POLG:5428|FANCI:55215
SO:0001583|missense variant,SO:0001624|3 prime UTR variant
1
dbSNP ID 3087374
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None