NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) AND Charcot-Marie-Tooth disease axonal type 2F
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000468245.7
Allele description [Variation Report for NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)]
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2F (CMT2F)
- Synonyms:
- Charcot-Marie-Tooth disease type 2F; CMT 2F; Charcot-Marie-Tooth disease, neuronal, Type 2F; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011687; MedGen: C1847823; Orphanet: 99940; OMIM: 606595
-
Homo sapiens protocadherin beta 1 (PCDHB1), mRNA
Homo sapiens protocadherin beta 1 (PCDHB1), mRNAgi|1777425430|ref|NM_013340.4|Nucleotide
-
Hepatitis B virus DNA, complete genome
Hepatitis B virus DNA, complete genomegi|6063422|dbj|AB033550.1|Nucleotide
-
psd2 phosphatidylserine decarboxylase Psd2 [Schizosaccharomyces pombe]
psd2 phosphatidylserine decarboxylase Psd2 [Schizosaccharomyces pombe]Gene ID:2541447Gene
-
FBP2 fructose-bisphosphatase 2 [Bos taurus]
FBP2 fructose-bisphosphatase 2 [Bos taurus]Gene ID:514066Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024