View genomic variant #0000002349

Chromosome 15
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.89859991A>C
Published as -
GERP -1.440
Segregation -
DB-ID FANCI_000002
MSCV MSCV_0002349
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

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 0000002349 +?/+? - 23/23 c.3711T>G - r.(=) p.(=) - synonymous_variant - -
POLG 00000267 NM_002693.2 0000002349 +?/+? - 23/23 c.3711T>G - r.(=) p.(=) - synonymous_variant - -
FANCI 00003110 NM_018193.2 0000002349 +?/+? - - c.*301A>C - r.(=) p.(=) - - - -
Legend  


MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None