NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala) AND Neurofibromatosis, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000555162.4
Allele description [Variation Report for NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala)]
NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala)
Condition(s)
- Name:
- Neurofibromatosis, type 1 (NF1)
- Synonyms:
- NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200
-
Rattus norvegicus transaldolase 1 (Taldo1), mRNA
Rattus norvegicus transaldolase 1 (Taldo1), mRNAgi|402743807|ref|NM_031811.3|Nucleotide
-
AGENCOURT_10186933 NIH_MGC_109 Homo sapiens cDNA clone IMAGE:6584607 5', mRNA se...
AGENCOURT_10186933 NIH_MGC_109 Homo sapiens cDNA clone IMAGE:6584607 5', mRNA sequencegi|22907137|gnl|dbEST|13868548|gb|B 41.1|Nucleotide
-
fws [Bacillus rossius redtenbacheri]
fws [Bacillus rossius redtenbacheri]Gene ID:134528304Gene
-
arrdc2 arrestin domain containing 2 [Danio rerio]
arrdc2 arrestin domain containing 2 [Danio rerio]Gene ID:335206Gene
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Last Updated: Sep 29, 2024