NM_004260.4(RECQL4):c.1416C>T (p.Ala472=) AND Baller-Gerold syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002121823.6
Allele description [Variation Report for NM_004260.4(RECQL4):c.1416C>T (p.Ala472=)]
NM_004260.4(RECQL4):c.1416C>T (p.Ala472=)
Condition(s)
-
mitochondrial carrier protein [Spathaspora passalidarum NRRL Y-27907]
mitochondrial carrier protein [Spathaspora passalidarum NRRL Y-27907]gi|598064027|ref|XP_007372842.1|Protein
-
Corynebacterium amycolatum strain BR-SW-25 beta-lactamase (bla) gene, partial cd...
Corynebacterium amycolatum strain BR-SW-25 beta-lactamase (bla) gene, partial cdsgi|2273594119|gb|ON630904.1|Nucleotide
-
Corynebacterium amycolatum strain BR-SW-28 beta-lactamase (bla) gene, partial cd...
Corynebacterium amycolatum strain BR-SW-28 beta-lactamase (bla) gene, partial cdsgi|2273594123|gb|ON630906.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024