(Q19888172)

English

NM 000492.3(CFTR):c.1521 1523delCTT (p.Phe508delPhe)

deletion mutation in a human gene

deltaF508
DF508

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Statements

inframe variant

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cystic fibrosis

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cystic fibrosis transmembrane conductance regulator

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human chromosome 7

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117199646

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117199648

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official website

http://www.ncbi.nlm.nih.gov/clinvar/variation/7105/

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Identifiers

ClinVar Variation ID

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dbSNP Reference SNP number

152

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HGVS nomenclature

NC_000007.14:g.117559592_117559594delCTT

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NG_016465.3:g.98809_98811delCTT

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NM_000492.3:c.1521_1523delCTT

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NP_000483.3:p.Phe508del

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NC_000007.13:g.117199646_117199648delCTT

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NG_016465.1:g.84630_84632delCTT

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NP_000483.3:p.Phe508delPhe

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Sitelinks

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