NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002319948.3
Allele description [Variation Report for NM_004415.4(DSP):c.3346T>C (p.Tyr1116His)]
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Influenza A virus (A/Wisconsin/629-S1313/2009(H1N1)) segment 5, complete sequenc...
Influenza A virus (A/Wisconsin/629-S1313/2009(H1N1)) segment 5, complete sequencegi|291359862|gnl|NIGSP|NIGSP_MCW_00 P|gb|CY057625.1|Nucleotide
-
Chiroptera glyceraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA, partial cds.
Chiroptera glyceraldehyde-3-phosphate dehydrogenase (GAPDH) mRNA, partial cds.PopSet: 874528222PopSet
-
Short metacarpals with rounded proximal ends
Short metacarpals with rounded proximal endsMedGen
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024