Genomic variant #0000279893

Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161279672G>A
DNA change (hg38) -
Published as MPZ(NM_000530.6):c.24C>T (p.S8=)
ISCN -
DB-ID MPZ_000195
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00046 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
MPZ NM_000530.6 -/. - c.24C>T benign r.(?) p.(=) - -
SDHC NM_003001.3 -/. - c.-4524G>A benign r.(?) p.(=) - -