Variant #0000630800 (NC_000007.13:g.117292931C>G, CFTR(NM_000492.3):c.3909C>G)

Individual ID 00000038
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.117292931C>G
DNA change (hg38) g.117652877C>G
Published as -
ISCN -
DB-ID CFTR_000004 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner Global Variome, with Curator vacancy
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFTR NM_000492.3 ?/. 24 c.3909C>G r.(?) p.(Asn1303Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000038 DNA SEQ-NG - - ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1 9 Global Variome, with Curator vacancy