NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001239895.7
Allele description [Variation Report for NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)]
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
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
-
Vicia faba var. faba voucher IT228951 maturase K (matK) gene, partial cds; chlor...
Vicia faba var. faba voucher IT228951 maturase K (matK) gene, partial cds; chloroplastgi|937539433|gb|KP897057.1|Nucleotide
-
Stevia berlandieri (0)
SRA
-
Stevia berlandieri AND 1[s_discriminator] (0)
dbGaP
-
Danio rerio glutaminyl-tRNA amidotransferase subunit QRSL1 (qrsl1), mRNA; nuclea...
Danio rerio glutaminyl-tRNA amidotransferase subunit QRSL1 (qrsl1), mRNA; nuclear gene for mitochondrial productgi|169646822|ref|NM_001118898.1|Nucleotide
-
PREDICTED: Ornithorhynchus anatinus solute carrier family 2 member 3 (SLC2A3), m...
PREDICTED: Ornithorhynchus anatinus solute carrier family 2 member 3 (SLC2A3), mRNAgi|1998673487|ref|XM_029054433.2|Nucleotide
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Last Updated: Sep 29, 2024