Variant #0000846115 (NC_000019.9:g.44001891T>C, NC_000019.9(NM_198850.3):c.663+9A>G (PHLDB3))

Individual ID 00000041
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.44001891T>C
Reference -
DB-ID PHLDB3_000003 See all 24 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.60727 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 19:41:41 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
PHLDB3 NM_198850.3 ./. - c.663+9A>G 663 r.(=) p.(=) - intron 9



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000053 DNA SEQ-NG - - 51335 LOVD