NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) AND Cystic fibrosis
- Germline classification:
- Conflicting interpretations of pathogenicity (4 submissions)
- Last evaluated:
- Nov 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001273210.16
Allele description [Variation Report for NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)]
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
Condition(s)
-
Homo sapiens zinc finger DHHC-type palmitoyltransferase 21 (ZDHHC21), transcript...
Homo sapiens zinc finger DHHC-type palmitoyltransferase 21 (ZDHHC21), transcript variant 12, mRNAgi|1677537797|ref|NM_001354128.2|Nucleotide
-
Homo sapiens hypothetical protein LOC340481 (LOC340481), mRNA
Homo sapiens hypothetical protein LOC340481 (LOC340481), mRNAgi|30425537|ref|NM_178566.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 26, 2024