NM_000492.4(CFTR):c.1543T>C (p.Tyr515His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004525999.2
Allele description [Variation Report for NM_000492.4(CFTR):c.1543T>C (p.Tyr515His)]
NM_000492.4(CFTR):c.1543T>C (p.Tyr515His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
JGI_XZG45831.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7560779 5'...
JGI_XZG45831.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7560779 5', mRNA sequencegi|57279189|gnl|dbEST|27085220|gb|C 58.1|Nucleotide
-
216676[uid] AND (alive[prop]) (0)
Gene
-
BJ071594 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ071594 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL094o08 5', mRNA sequencegi|17501783|gnl|dbEST|10528023|dbj| 594.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 7, 2024