Variant #0000000106 (NC_000001.10:g.11850927C>T, MTHFR(NM_005957.4):c.1781G>A)

Individual ID 00000067
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
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) 0.05547 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHRNA3 NM_000743.4 +/. - NM_018002.3:c.1100C>G r.(?) p.(Ser367*)
MTHFR NM_005957.4 ?/. - c.1781G>A r.(?) p.(Arg594Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000067 DNA SEQ-NG - - ASPA, ATP7B, CDH23, CPT1A, CYP21A2, ETFB, GALC, GLB1, MEFV, MTHFR, MVK, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, WNT10A 18 Global Variome, with Curator vacancy