NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) AND Type IV short rib polydactyly syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jun 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515949.2
Allele description [Variation Report for NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)]
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)
Condition(s)
- Name:
- Type IV short rib polydactyly syndrome (SRTD12)
- Synonyms:
- SHORT RIB SYNDROME, BEEMER TYPE; SRPS IV; Short rib-polydactyly syndrome type 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010024; MedGen: C0432198; OMIM: 269860
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4930519K11Rik RIKEN cDNA 4930519K11 gene [Mus musculus]
4930519K11Rik RIKEN cDNA 4930519K11 gene [Mus musculus]Gene ID:78019Gene
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4930519K11Rik AND (alive[prop]) (1)
Gene
-
Obesity Prevention and Management
Obesity Prevention and Management
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022