NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) AND MYH7-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004534742.1
Allele description [Variation Report for NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)]
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
Condition(s)
- Name:
- MYH7-related disorder
- Synonyms:
- MYH7-related condition; MYH7-Related Disorders; MYH7-related disease
- Identifiers:
-
Rattus norvegicus galactokinase 1 (Galk1), mRNA
Rattus norvegicus galactokinase 1 (Galk1), mRNAgi|56605661|ref|NM_001008282.1|Nucleotide
-
Progressive peripheral neuropathy
Progressive peripheral neuropathyMedGen
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024