Variant #0000062925 (NC_000002.11:g.207638894A>C, FASTKD2(NM_001136194.1):c.1255-55A>C)

Individual ID 00035730
Chromosome 2
Allele Parent #1
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.207638894A>C
DNA change (hg38) g.206774170A>C
Published as -
ISCN -
DB-ID FASTKD2_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs73985719
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FASTKD2 NM_001136194.1 ?/. - c.1255-55A>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000035800 DNA SEQ - - FASTKD2 1 Andreas Laner