Variant #0000000115 (NC_000001.10:g.11850927C>T, MTHFR(NM_005957.4):c.1781G>A)

Individual ID 00000072
Chromosome 1
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.11850927C>T
DNA change (hg38) g.11790870C>T
Published as -
ISCN -
DB-ID MTHFR_000001 See all 14 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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTHFR NM_005957.4 ?/. - c.1781G>A r.(?) p.(Arg594Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000072 DNA SEQ-NG - - ARSB, ATP7B, CYP21A2, ETFB, GLB1, IGHMBP2, MTHFR, NHLRC1, NPHS1, PMM2, PPT1, SERPINA1, SMPD1 17 Global Variome, with Curator vacancy