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NM_001001557.4:c.1304C>T
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NM_001001557.4:c.1304C>T
HGVS Expressions
NG_008981.1:g.21166C>T
NM_001001557.4:c.1304C>T
NP_001001557.1:p.Ala435Val
NC_000008.11:g.96144627G>A
Associated Genes
Growth/Differentiation Factor 6
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Clinvar Clinical Significance
Benign, Likely Benign, Uncertain Significance
CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
140782427
Clinvar
364042
Epidemiology in the Arab World
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Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
118100.1
Yemen
1
Uncertain Significance
Klippel-Feil Syndrome 1, Autosomal Dominant
Ali et al. 2024
Patient from 'family 11' in the publicat...
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Contributors
Asha Deepthi: 23.08.2024
Edit History
Asha Deepthi: 23.08.2024
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