Variant #0000861535 (NC_000009.11:g.136219448C>G, NM_003172.3:c.604G>C (SURF1))

Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.136219448C>G
DNA change (hg38) -
Published as SURF1(NM_003172.4):c.604G>C (p.D202H, p.(Asp202His))
ISCN -
DB-ID RPL7A_000024 See all 2 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) 0.01381 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2024-04-19 20:27:30 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPL7A NM_000972.2 -/. - c.*1227C>G r.(=) p.(=)
SURF1 NM_003172.3 -/. - c.604G>C r.(?) p.(Asp202His)


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