{{Rsnum
|rsid=1800098
|Gene=CFTR
|Chromosome=7
|position=117590400
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.003673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CFTR
}}{{omim
|desc=VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|id=602421
|rsnum=1800098
|variant=0061
}}

{{ClinVar
|rsid=1800098
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=117230454
|CHROM=7
|GMAF=0.0037
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050368000000050416110100
|GENEINFO=CFTR:1080
|GENE_NAME=CFTR
|GENE_ID=1080
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.117230454G>C
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=266; 602421.0061
|CLNSIG=5
|CLNCUI=CN069039
|CLNDBN=Congenital bilateral absence of the vas deferens; Cystic fibrosis; not provided
|Disease=Congenital bilateral absence of the vas deferens; Cystic fibrosis; not provided
|CLNACC=RCV000007585.1; RCV000029486.2; RCV000078981.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9963; 0.003673
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1250:CN032726:277180:48; NBK1250:C0010674:219700:586:190905008
|COMMON=1
}}

{{PMID Auto
|PMID=18716917
|Title=A novel computational and structural analysis of nsSNPs in CFTR gene.
|OA=1
}}

{{PMID Auto
|PMID=108758
|Title=Psychologic vulnerability in epileptic patients.
}}

{{PMID Auto
|PMID=1379210
|Title=Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
}}

{{PMID Auto
|PMID=10653141
|Title=Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.
}}

{{PMID Auto
|PMID=12127423
|Title=Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.
}}

{{PMID Auto
|PMID=15705292
|Title=Molecular pathology of the CFTR locus in male infertility.
}}

{{PMID Auto
|PMID=15880796
|Title=Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.
}}

{{GET Evidence
|gene=CFTR
|aa_change=Gly576Ala
|aa_change_short=G576A
|impact=pathogenic
|qualified_impact=High clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1800098
|overall_frequency_n=51
|overall_frequency_d=10744
|overall_frequency=0.00474684
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=3
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.294
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=2
|clinical_importance=1
|summary_short=Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}