{{Rsnum
|rsid=12339210
|Gene=DFNB31
|Chromosome=9
|position=114407961
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.0652
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=DFNB31
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 23.2 | 76.8
| HCB | 0.0 | 3.6 | 96.4
| JPT | 0.0 | 1.8 | 98.2
| YRI | 0.0 | 0.7 | 99.3
| ASW | 0.0 | 7.0 | 93.0
| CHB | 0.0 | 3.6 | 96.4
| CHD | 0.0 | 8.3 | 91.7
| GIH | 0.0 | 3.0 | 97.0
| LWK | 0.0 | 1.8 | 98.2
| MEX | 0.0 | 15.5 | 84.5
| MKK | 0.0 | 1.3 | 98.7
| TSI | 1.0 | 13.7 | 85.3
| HapMapRevision=28
}}{{Venter SNP
|rsid=12339210
|allele=C
|frequency=0.158
|uid=1103652166719
|type=heterozygous_SNP
|hugo=DFNB31
|ensembl gene=ENSG00000095397
|ensembl transcript=ENST00000362057
|sift=
|disease=Defects in WHRN are a cause of autosomal recessive deafness type 31 (DFNB31) (MIM:607084). This sensorineural hearing loss is bilateral and profound and manifests itself already in the prelingual period in early childhood.
}}

{{ClinVar
|rsid=12339210
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=117170241
|CHROM=9
|GMAF=0.065
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x05016800000015051f100101
|GENEINFO=DFNB31:25861
|GENE_NAME=DFNB31
|GENE_ID=25861
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.117170241G>C
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9348; 0.0652
|CLNACC=RCV000038879.1
|CLNDBN=AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|COMMON=1
|Disease=AllHighlyPenetrant
}}

{{PMID Auto
|PMID=20352026
|Title=Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
|OA=1
}}

{{GET Evidence
|gene=DFNB31
|aa_change=Pro562Ala
|aa_change_short=P562A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12339210
|overall_frequency_n=979
|overall_frequency_d=10752
|overall_frequency=0.0910528
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}