NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) AND Diastrophic dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001157071.4
Allele description [Variation Report for NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)]
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)
Condition(s)
-
CBTC10691.rev NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8941260 3'...
CBTC10691.rev NICHD_XGC_tropBone1 Xenopus tropicalis cDNA clone IMAGE:8941260 3', mRNA sequencegi|126259436|gnl|dbEST|45033100|gb| 548.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024