NM_001354604.2(MITF):c.880+9C>G AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001088700.7
Allele description [Variation Report for NM_001354604.2(MITF):c.880+9C>G]
NM_001354604.2(MITF):c.880+9C>G
Condition(s)
- Name:
- Tietz syndrome (TADS)
- Synonyms:
- Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome
- Identifiers:
- MONDO: MONDO:0007077; MedGen: C0391816; Orphanet: 42665; OMIM: 103500
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CBXT11412.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9010032 3', m...
CBXT11412.g1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:9010032 3', mRNA sequencegi|133819776|gnl|dbEST|45249297|gb| 337.1|Nucleotide
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EC0CAA004CE04.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA...
EC0CAA004CE04.g1 Xenopus tropicalis xthr plasmid library Xenopus tropicalis cDNA clone xthr04J07 5', mRNA sequencegi|45913139|gnl|dbEST|22233632|gb|C 43.1|Nucleotide
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Last Updated: Sep 29, 2024