NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val) AND Cutis laxa, autosomal dominant 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001195769.2
Allele description [Variation Report for NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)]
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val)
Condition(s)
-
SRX19732835 (1)
SRA
-
Peptidase M20/M25/M40 family protein [Arabidopsis thaliana]
Peptidase M20/M25/M40 family protein [Arabidopsis thaliana]gi|15219359|ref|NP_175082.1|Protein
-
Brachyhypopomus beebei isolate 39375 Zic family member protein (zic1) gene, part...
Brachyhypopomus beebei isolate 39375 Zic family member protein (zic1) gene, partial cdsgi|959157984|gb|KR491870.1|Nucleotide
-
Posterior Urethral Valves Type 3
Posterior Urethral Valves Type 3MedGen
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Last Updated: Dec 17, 2022