Variant #0000322541 (NC_000011.9:g.118963227G>C, NM_000190.3:c.765G>C (HMBS))

Chromosome 11
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.118963227G>C
DNA change (hg38) g.119092517G>C
Published as HMBS(NM_000190.3):c.765G>C (p.(Arg255Ser))
ISCN -
DB-ID HMBS_000025
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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HMBS NM_000190.3 -?/. - c.765G>C r.(?) p.(Arg255Ser)
DPAGT1 NM_001382.3 -?/. - c.*4481C>G r.(=) p.(=)
H2AFX NM_002105.2 -?/. - c.*2446C>G r.(=) p.(=)


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