Variant #0000507704 (NC_000001.10:g.45973923G>A, MMACHC(NM_015506.2):c.316G>A)

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.45973923G>A
DNA change (hg38) g.45508251G>A
Published as MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_015506.2):c.316G>A (p.E106K)
ISCN -
DB-ID MMACHC_000019 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00052 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMACHC NM_015506.2 ?/. - c.316G>A r.(?) p.(Glu106Lys)
PRDX1 NM_181697.2 ?/. - c.*3078C>T r.(=) p.(=)