NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487246.8
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)
- Name:
- Bronchiectasis with or without elevated sweat chloride 1 (BESC1)
- Synonyms:
- Cystic Fibrosis-Like Syndrome
- Identifiers:
- MONDO: MONDO:0008887; MedGen: C2749757; Orphanet: 60033; OMIM: 211400
- Name:
- Cystic fibrosis (CF)
- Synonyms:
- Mucoviscidosis
- Identifiers:
- MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700
-
Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNA
Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNAgi|31341670|ref|NM_178566.2|Nucleotide
-
RecName: Full=P-selectin glycoprotein ligand 1; Short=PSGL-1; AltName: Full=Sele...
RecName: Full=P-selectin glycoprotein ligand 1; Short=PSGL-1; AltName: Full=Selectin P ligand; AltName: CD_antigen=CD162; Flags: Precursorgi|2498904|sp|Q14242.1|SELPL_HUMANProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jul 15, 2024