NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp) AND Neurofibromatosis, type 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001854688.6
Allele description [Variation Report for NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp)]
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp)
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
-
gamma-aminobutyric acid receptor subunit rho-2 precursor [Homo sapiens]
gamma-aminobutyric acid receptor subunit rho-2 precursor [Homo sapiens]gi|406035350|ref|NP_002034.3|Protein
-
dab24g02.y1 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:4175426 5' similar to ...
dab24g02.y1 NICHD_XGC_Sp1 Xenopus laevis cDNA clone IMAGE:4175426 5' similar to SW:SDF1_FELCA O62657 STROMAL CELL-DERIVED FACTOR 1 PRECURSOR, mRNA sequencegi|13314718|gnl|dbEST|8129953|gb|BG 9.1|Nucleotide
-
Chain B, Ribonuclease H1
Chain B, Ribonuclease H1gi|160285888|pdb|2QKK|BProtein
-
Chain D, Hybrid-binding domain of human RNase H1 in complex with 12-mer RNA/DNA
Chain D, Hybrid-binding domain of human RNase H1 in complex with 12-mer RNA/DNAgi|170785163|pdb|3BSU|DNucleotide
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Last Updated: Sep 29, 2024