NM_004415.4(DSP):c.7163T>C (p.Val2388Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003790214.2
Allele description [Variation Report for NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)]
NM_004415.4(DSP):c.7163T>C (p.Val2388Ala)
Condition(s)
- Name:
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Synonyms:
- Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676
- Name:
- Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
- Identifiers:
- MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
-
Tia1 cytotoxic granule-associated RNA binding protein 1 [Mus musculus]
Tia1 cytotoxic granule-associated RNA binding protein 1 [Mus musculus]Gene ID:21841Gene
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DC183435 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st68a0...
DC183435 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st68a05 5', mRNA sequencegi|119159988|gnl|dbEST|43424462|dbj 3435.1|Nucleotide
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BJ086627 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clon...
BJ086627 NIBB Mochii normalized Xenopus tailbud library Xenopus laevis cDNA clone XL053k09 3', mRNA sequencegi|17583109|gnl|dbEST|10554942|dbj| 627.1|Nucleotide
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BX851403 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGp998I1110922; IMAGE:495713...
BX851403 NICHD_XGC_Emb4 Xenopus laevis cDNA clone IMAGp998I1110922; IMAGE:4957138 5', mRNA sequencegi|39739616|gnl|dbEST|20906818|emb| 403.1|Nucleotide
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DC125159 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC125159 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone xl306p12 5', mRNA sequencegi|119085376|gnl|dbEST|43355575|dbj 5159.1|Nucleotide
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Last Updated: Sep 29, 2024