Variant #0000332881 (NC_000009.11:g.136221516_136221524del, NM_003172.3:c.313_321del (SURF1))

Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.136221516_136221524del
DNA change (hg38) g.133354661_133354669del
Published as SURF1(NM_003172.2):c.313_321del (p.(Leu105_Ala107del)), SURF1(NM_003172.3):c.313_321delCTGCCAGCC (p.L105_A107del), SURF1(NM_003172.4):c.313_321delC...
ISCN -
DB-ID RPL7A_000011 See all 4 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) 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
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +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.*3295_*3303del r.(=) p.(=)
SURF1 NM_003172.3 +/. - c.313_321del r.(?) p.(Leu105_Ala107del)
SURF2 NM_017503.3 +/. - c.-1953_-1945del r.(?) p.(=)


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