NM_000268.4(NF2):c.599+5G>A AND Neurofibromatosis, type 2
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001060064.8
Allele description [Variation Report for NM_000268.4(NF2):c.599+5G>A]
NM_000268.4(NF2):c.599+5G>A
Condition(s)
- Name:
- Neurofibromatosis, type 2 (SWNV)
- Synonyms:
- NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000
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db85d06.y1 Wellcome CRC pSK animal cap Xenopus laevis cDNA clone IMAGE:3379787 5...
db85d06.y1 Wellcome CRC pSK animal cap Xenopus laevis cDNA clone IMAGE:3379787 5' similar to gb:X59618_cds1 RIBONUCLEOSIDE-DIPHOSPHATE REDUCTASE M2 CHAIN (HUMAN); gb:X15666 Mouse DNA for M2 subunit of mouse ribonucleotide reductase (MOUSE), mRNA sequencegi|9726379|gnl|dbEST|5699845|gb|BE5 .1|Nucleotide
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db85d06.x1 Wellcome CRC pSK animal cap Xenopus laevis cDNA clone IMAGE:3379787 3...
db85d06.x1 Wellcome CRC pSK animal cap Xenopus laevis cDNA clone IMAGE:3379787 3' similar to gb:X59618_cds1 RIBONUCLEOSIDE-DIPHOSPHATE REDUCTASE M2 CHAIN (HUMAN); gb:X15666 Mouse DNA for M2 subunit of mouse ribonucleotide reductase (MOUSE), mRNA sequencegi|9730232|gnl|dbEST|5703698|gb|BE1 .2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024