NM_138694.4(PKHD1):c.449-15TTC[2] AND Autosomal recessive polycystic kidney disease
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000233390.14
Allele description [Variation Report for NM_138694.4(PKHD1):c.449-15TTC[2]]
NM_138694.4(PKHD1):c.449-15TTC[2]
Condition(s)
- Name:
- Autosomal recessive polycystic kidney disease (ARPKD)
- Synonyms:
- POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I; Polycystic kidney disease, infantile type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009889; MeSH: D017044; MedGen: C0085548; Orphanet: 731; Orphanet: 8378
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regulator of G-protein signaling 6 isoform X1 [Rattus norvegicus]
regulator of G-protein signaling 6 isoform X1 [Rattus norvegicus]gi|2678952963|ref|XP_063118437.1|Protein
-
PREDICTED: Rattus norvegicus angel homolog 2 (Angel2), transcript variant X1, mR...
PREDICTED: Rattus norvegicus angel homolog 2 (Angel2), transcript variant X1, mRNAgi|2678891965|ref|XM_039090820.2|Nucleotide
-
Rattus norvegicus angel homolog 2 (Angel2), transcript variant 1, mRNA
Rattus norvegicus angel homolog 2 (Angel2), transcript variant 1, mRNAgi|1937871000|ref|NM_001135119.3|Nucleotide
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Centrochelys sulcata voucher AMCC111025 anonymous locus TB01 genomic sequence
Centrochelys sulcata voucher AMCC111025 anonymous locus TB01 genomic sequencegi|1959484000|gb|MT962301.1|Nucleotide
-
Os07g0694700 [Oryza sativa Japonica Group]
Os07g0694700 [Oryza sativa Japonica Group]gi|937928460|dbj|BAT03377.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024