Variant #0000559235 (NC_000016.9:g.79632798G>C, MAF(NM_001031804.2):c.1002C>G)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.79632798G>C
DNA change (hg38) g.79598901G>C
Published as MAF(NM_001031804.2):c.1002C>G (p.(Ile334Met))
ISCN -
DB-ID MAF_000027
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) 1.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MAF NM_001031804.2 -?/. - c.1002C>G r.(?) p.(Ile334Met)
MAF NM_005360.4 -?/. - c.1002C>G r.(?) p.(Ile334Met)