NM_213655.5(WNK1):c.2571C>G (p.His857Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001053246.8
Allele description [Variation Report for NM_213655.5(WNK1):c.2571C>G (p.His857Gln)]
NM_213655.5(WNK1):c.2571C>G (p.His857Gln)
Condition(s)
- Name:
- Neuropathy, hereditary sensory and autonomic, type 2A (HSAN2A)
- Synonyms:
- ACROOSTEOLYSIS, GIACCAI TYPE; ACROOSTEOLYSIS, NEUROGENIC; HSAN IIA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024309; MedGen: C2752089; Orphanet: 970; OMIM: 201300
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Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), mRNA
Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), mRNAgi|6325463|ref|NM_006994.2|Nucleotide
-
Mus musculus xylulokinase homolog (H. influenzae), mRNA (cDNA clone MGC:169871 I...
Mus musculus xylulokinase homolog (H. influenzae), mRNA (cDNA clone MGC:169871 IMAGE:8861266), complete cdsgi|187951900|gb|BC138247.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024