Variant #0000678577 (NC_000009.11:g.136219307T>C, NM_003172.3:c.745A>G (SURF1))

Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.136219307T>C
DNA change (hg38) -
Published as SURF1(NM_003172.3):c.745A>G (p.N249D), SURF1(NM_003172.4):c.745A>G (p.N249D)
ISCN -
DB-ID RPL7A_000005 See all 3 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) 0.00032 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-08-06 14:59:34 +02:00 (CEST)
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.*1086T>C r.(=) p.(=)
SURF1 NM_003172.3 ?/. - c.745A>G r.(?) p.(Asn249Asp)
SURF2 NM_017503.3 ?/. - c.-4162T>C r.(?) p.(=)
MED22 NM_133640.3 ?/. - c.-4569A>G r.(?) p.(=)


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