Variant: chr5-36972137-C-A

INDEX-db frequencies

INDEX ALL INDEX Male INDEX Female INDEX Controls
Allele Count 1 0 1 1
Allele Number 350 202 148 350
Allele Frequency 0.00286 0.00000 0.00676 0.00286
Number of Homozygotes 0 0 0 0

Gene: NIPBL

Region: exonic

Annotation: nonsynonymous_SNV

Consequence: ['c.C862A', 'p.P288T']

Average Genotype Quality in variant carriers: 247.00

Average Depth at the site in variant carriers: 152.00

dbSNP ID: rs546188623

ClinVar: chr5-36972137-C-A

UCSC Browser: chr5-36972137-C-A

Browse the variant in INDEX-db genome browser


In silico functional predictions

Score Prediction
SIFT 0.02 D
Polyphen2 HDIV 0.16 B
Polyphen2 HVAR 0.087 B
Mutation Taster 0.728 D
Mutation Assessor 0.805 L
LRT 0.000 D
FATHMM -3.3 D
CADD Phred 22.4 .
CADD Raw 3.069 .

Exome Aggregation Consortium frequencies

Allele Frequency
ExAC ALL 0.0003
ExAC SAS 0.0023
ExAC AFR 0
ExAC AMR 0
ExAC EAS 0
ExAC FIN 0
ExAC NFE 0
ExAC OTH 0
1000 Genomes 0.000199681