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NM_001164317.2:c.488A>C
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NM_001164317.2:c.488A>C
HGVS Expressions
NG_012801.1:g.73842A>T
NM_001164317.2:c.488A>C
NP_001157789.1:p.Gln163Pro
NC_000003.12:g.58077241A>C
Associated Genes
Filamin B
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CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
150250.1
Saudi Arabia
1
NA
Uncertain Significance
Larsen Syndrome
Maddirevula et al. 2018
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Contributors
Asha Deepthi: 29.11.2021
Edit History
Rahila Mir: 22.02.2022
Asha Deepthi: 29.11.2021
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