NM_001122955.4(BSCL2):c.1005+4G>T AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000538782.10
Allele description [Variation Report for NM_001122955.4(BSCL2):c.1005+4G>T]
NM_001122955.4(BSCL2):c.1005+4G>T
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
hypothetical protein FLAPJACK_12 [Bacillus phage Flapjack]
hypothetical protein FLAPJACK_12 [Bacillus phage Flapjack]gi|1192699821|gb|ARQ94926.1|Protein
-
Coro2b coronin, actin binding protein, 2B [Mus musculus]
Coro2b coronin, actin binding protein, 2B [Mus musculus]Gene ID:235431Gene
-
235431[uid] AND (alive[prop]) (1)
Gene
-
SLC38A1 solute carrier family 38 member 1 [Homo sapiens]
SLC38A1 solute carrier family 38 member 1 [Homo sapiens]Gene ID:81539Gene
-
81539[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 16, 2024