NM_000527.5(LDLR):c.313+8T>A AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 25, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001440929.7
Allele description [Variation Report for NM_000527.5(LDLR):c.313+8T>A]
NM_000527.5(LDLR):c.313+8T>A
Condition(s)
-
Smad6 SMAD family member 6 [Mus musculus]
Smad6 SMAD family member 6 [Mus musculus]Gene ID:17130Gene
-
AGENCOURT_78603776 NICHD_XGC_limb Xenopus laevis cDNA clone IMAGE:8638152 5', mR...
AGENCOURT_78603776 NICHD_XGC_limb Xenopus laevis cDNA clone IMAGE:8638152 5', mRNA sequencegi|95017806|gnl|dbEST|39159993|gb|E 90.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024