NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr) AND Trichorhinophalangeal dysplasia type I
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000505319.10
Allele description [Variation Report for NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)]
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)
Condition(s)
- Name:
- Trichorhinophalangeal dysplasia type I (TRPS1)
- Synonyms:
- TRPS I; Trichorhinophalangeal syndrome type 1; Giedion syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008596; MedGen: C0432233; Orphanet: 77258; OMIM: 190350
-
PREDICTED: Cucumis melo transcription factor bHLH70 (LOC103483091), transcript v...
PREDICTED: Cucumis melo transcription factor bHLH70 (LOC103483091), transcript variant X1, mRNAgi|2316560209|ref|XM_008439526.3|Nucleotide
-
Inocybe umbrina (1)
Taxonomy
-
JGI_CABH8664.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7851872...
JGI_CABH8664.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7851872 5', mRNA sequencegi|73777420|gnl|dbEST|31032635|gb|D 23.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024