NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val) AND Dilated cardiomyopathy 1II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001906953.5
Allele description [Variation Report for NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val)]
NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val)
Condition(s)
-
Fungal sp. 115 MCS-2014 internal transcribed spacer 1, partial sequence; 5.8S ri...
Fungal sp. 115 MCS-2014 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|683419604|gb|KM374071.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024