NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001967440.4
Allele description [Variation Report for NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del)]
NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
COL4A1 or COL4A2-related cerebral small vessel disease
COL4A1 or COL4A2-related cerebral small vessel diseaseMedGen
-
C5680103[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024