NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000226865.18
Allele description [Variation Report for NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)]
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
Condition(s)
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
-
ornithine cyclodeaminase family protein [Sulfolobus sp. S-194]
ornithine cyclodeaminase family protein [Sulfolobus sp. S-194]gi|2752240057|ref|WP_353616872.1|Protein
-
KLRB1 [Moschus berezovskii]
KLRB1 [Moschus berezovskii]Gene ID:129535743Gene
-
mgat4c [Cottoperca gobio]
mgat4c [Cottoperca gobio]Gene ID:115010151Gene
-
GALNT10 [Ursus americanus]
GALNT10 [Ursus americanus]Gene ID:123788522Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024