NM_003235.5(TG):c.6055+1G>A AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003663672.1
Allele description
NM_003235.5(TG):c.6055+1G>A
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant...
PREDICTED: Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant X16, mRNAgi|2217373993|ref|XM_011517649.4|Nucleotide
-
PREDICTED: Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant...
PREDICTED: Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant X3, mRNAgi|2462621870|ref|XM_054361618.1|Nucleotide
-
PREDICTED: Homo sapiens glutamate ionotropic receptor NMDA type subunit 1 (GRIN1...
PREDICTED: Homo sapiens glutamate ionotropic receptor NMDA type subunit 1 (GRIN1), transcript variant X4, mRNAgi|2462624361|ref|XM_054362809.1|Nucleotide
-
protein zer-1 homolog isoform a [Mus musculus]
protein zer-1 homolog isoform a [Mus musculus]gi|31542271|ref|NP_848809.2|Protein
-
Genito-palato-cardiac syndrome
Genito-palato-cardiac syndromeMedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024