View genomic variant #0000000579

Chromosome 15
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) 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
MSCV MSCV_0000579
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

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
POLG 00000266 NM_001126131.1 0000000579 -/- - 23/23 c.3708G>T - r.(?) p.(Gln1236His) benign(0.004) missense_variant - tolerated(0.16)
POLG 00000267 NM_002693.2 0000000579 -/- - 23/23 c.3708G>T - r.(?) p.(Gln1236His) benign(0.004) missense_variant - tolerated(0.16)
FANCI 00003110 NM_018193.2 0000000579 -/- - - c.*304C>A - r.(=) p.(=) - - - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000291582; RCV000020480; RCV000327842; RCV000118022;
Chromosome 15:89859994..89859994
Allele frequencies from ESP 0.0596
Allele frequencies from ExAC 0.06136
Allele frequencies from TGP 0.0270
ClinVar Allele ID 34168
Disease database name and identifier MedGen:C0015625, Orphanet:ORPHA84, SNOMED CT:30575002|MedGen:C0751651, Orphanet:ORPHA68380|MedGen:CN169374|MedGen:CN239393
ClinVar preferred disease name Fanconi anemia|Mitochondrial diseases|not specified|POLG-Related Spectrum Disorders
HGVS variant names NC 000015.9:g.89859994C>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Benign/Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported 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
Molecular consequence SO:0001583|missense variant, SO:0001624|3 prime UTR variant
Allele origin germline
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