Genomic variant #0000000108

Individual ID 00000069, 00081365
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.11850927C>T
DNA change (hg38) g.11790870C>T
Published as -
ISCN -
DB-ID MTHFR_000001 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.0406 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MTHFR NM_005957.4 ./. - c.1781G>A - r.(?) p.(Arg594Gln)
FAM20C NM_020223.3 +/. - c.796C>T pathogenic (recessive) r.(?) p.(Arg266Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000069 DNA SEQ-NG - - AHI1, ARSB, ATP7B, CYP27A1, ETFB, GLB1, HEXA, HEXB, LAMA2, MTHFR, MYO5A, NHLRC1, NPHS1, PMM2, SBDS 17 LOVD-team, but with Curator vacancy
0000081478 DNA SEQ;arraySNP;PCR - - HTT 140 Chris Kay