NM_024301.5(FKRP):c.1177G>T (p.Val393Leu) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002339922.2
Allele description [Variation Report for NM_024301.5(FKRP):c.1177G>T (p.Val393Leu)]
NM_024301.5(FKRP):c.1177G>T (p.Val393Leu)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
PREDICTED: Mus musculus solute carrier family 35, member F2 (Slc35f2), transcrip...
PREDICTED: Mus musculus solute carrier family 35, member F2 (Slc35f2), transcript variant X1, mRNAgi|755530479|ref|XM_006511460.2|Nucleotide
-
Mus musculus potassium voltage-gated channel, subfamily Q, member 1, mRNA (cDNA ...
Mus musculus potassium voltage-gated channel, subfamily Q, member 1, mRNA (cDNA clone MGC:54702 IMAGE:6314642), complete cdsgi|28175697|gb|BC045142.1|Nucleotide
-
Mus musculus retinol saturase (all trans retinol 13,14 reductase), mRNA (cDNA cl...
Mus musculus retinol saturase (all trans retinol 13,14 reductase), mRNA (cDNA clone MGC:143538 IMAGE:40090531), complete cdsgi|109734851|gb|BC117751.1|Nucleotide
-
Mus musculus acyl-CoA synthetase short-chain family member 2, mRNA (cDNA clone M...
Mus musculus acyl-CoA synthetase short-chain family member 2, mRNA (cDNA clone MGC:58895 IMAGE:6515568), complete cdsgi|30411040|gb|BC051432.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024