NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) AND Cerebral cavernous malformation 2
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001049222.11
Allele description [Variation Report for NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)]
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)
Condition(s)
-
ENTPD2 [Camelus ferus]
ENTPD2 [Camelus ferus]Gene ID:102521977Gene
-
EDN1 [Papio anubis]
EDN1 [Papio anubis]Gene ID:100999182Gene
-
Mouse cGMP-gated rod photoreceptor channel related mRNA sequence
Mouse cGMP-gated rod photoreceptor channel related mRNA sequencegi|200349|gb|L02636.1|MUSPHOTOBNucleotide
-
fimH [Escherichia coli O127:H6 str. E2348/69]
fimH [Escherichia coli O127:H6 str. E2348/69]Gene ID:7062125Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024