NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074201.2
Allele description [Variation Report for NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)]
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
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DC075380 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC075380 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone rxl254c05 3', mRNA sequencegi|119027333|gnl|dbEST|43302768|dbj 5380.1|Nucleotide
-
CBSU4859.fwd NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8867130 5'...
CBSU4859.fwd NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8867130 5', mRNA sequencegi|126586005|gnl|dbEST|45100429|gb| 070.1|Nucleotide
-
BJ054313 NIBB Mochii normalized Xenopus neurula library Xenopus laevis cDNA clon...
BJ054313 NIBB Mochii normalized Xenopus neurula library Xenopus laevis cDNA clone XL049o18 3', mRNA sequencegi|17421154|gnl|dbEST|10507428|dbj| 313.1|Nucleotide
-
de36f02.y2 Wellcome CRC pRN3 dorsal lip Xenopus laevis cDNA clone IMAGE:3473811 ...
de36f02.y2 Wellcome CRC pRN3 dorsal lip Xenopus laevis cDNA clone IMAGE:3473811 5', mRNA sequencegi|13593876|gnl|dbEST|8303810|gb|BG 2.1|Nucleotide
-
JGI_XZT66599.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7785811 3'...
JGI_XZT66599.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7785811 3', mRNA sequencegi|57050352|gnl|dbEST|26938687|gb|C 23.1|Nucleotide
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Last Updated: Oct 13, 2024