NM_002161.6(IARS1):c.2422C>G (p.Arg808Gly) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004065649.1
Allele description [Variation Report for NM_002161.6(IARS1):c.2422C>G (p.Arg808Gly)]
NM_002161.6(IARS1):c.2422C>G (p.Arg808Gly)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 1BMedGen
-
C1847024[conceptid] (1)
MedGen
-
PREDICTED: Mus caroli N-acetylglucosaminyl-phosphatidylinositol biosynthetic pro...
PREDICTED: Mus caroli N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein-like (LOC110307754), partial mRNAgi|1679818650|ref|XM_021179952.2|Nucleotide
-
HeLa_WT_RRBS
HeLa_WT_RRBSbiosample
-
Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast), mRNA (cDNA...
Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast), mRNA (cDNA clone IMAGE:3914054), partial cdsgi|16877572|gb|BC017038.1|Nucleotide
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Last Updated: Oct 26, 2024