NM_016449.4(DRICH1):c.115T>G (p.Ser39Ala) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004329312.1
Allele description [Variation Report for NM_016449.4(DRICH1):c.115T>G (p.Ser39Ala)]
NM_016449.4(DRICH1):c.115T>G (p.Ser39Ala)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Mus musculus adhesion G protein-coupled receptor A2 (Adgra2), mRNA
Mus musculus adhesion G protein-coupled receptor A2 (Adgra2), mRNAgi|300934758|ref|NM_054044.2|Nucleotide
-
PREDICTED: Mus musculus carnitine palmitoyltransferase 1c (Cpt1c), transcript va...
PREDICTED: Mus musculus carnitine palmitoyltransferase 1c (Cpt1c), transcript variant X1, misc_RNAgi|1907185014|ref|XR_882037.3|Nucleotide
-
Homo sapiens COPI coat complex subunit beta 1 (COPB1), transcript variant 3, mRN...
Homo sapiens COPI coat complex subunit beta 1 (COPB1), transcript variant 3, mRNAgi|1890257983|ref|NM_001144062.2|Nucleotide
-
Mus musculus loricrin cornified envelope precursor protein (Loricrin), mRNA
Mus musculus loricrin cornified envelope precursor protein (Loricrin), mRNAgi|2175849664|ref|NM_008508.3|Nucleotide
-
Mus musculus itpr2v mRNA for type-2 inositol 1,4,5-trisphosphate receptor splice...
Mus musculus itpr2v mRNA for type-2 inositol 1,4,5-trisphosphate receptor splice variant, complete cdsgi|60458395|dbj|AB182290.1|Nucleotide
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Last Updated: Oct 26, 2024