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NM_000551.3:c.227T>G
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NM_000551.3:c.227T>G
HGVS Expressions
NG_008212.3:g.5440T>G
NM_000551.3:c.227T>G
NP_000542.1:p.Phe76Cys
NC_000003.12:g.10142074T>G
Associated Genes
VHL Gene
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Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
730882033
Clinvar
496051
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
193300.4.1
Lebanon
1
Pathogenic
Von Hippel-Lindau Syndrome
Medlej-Hashim et al. 2004
193300.4.2
Lebanon
1
Pathogenic
Von Hippel-Lindau Syndrome
Medlej-Hashim et al. 2004
Son of 193300.4.1
193300.4.3
Lebanon
1
Pathogenic
Von Hippel-Lindau Syndrome
Medlej-Hashim et al. 2004
Mother of 193300.4.1
193300.4.4
Lebanon
1
Pathogenic
Von Hippel-Lindau Syndrome
Medlej-Hashim et al. 2004
Brother of 193300.4.1
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Contributors
Sayeeda Hana: 21.03.2020
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 21.03.2020
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