NM_001031715.3(IQCH):c.2291A>G (p.Asn764Ser) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004400884.1
Allele description [Variation Report for NM_001031715.3(IQCH):c.2291A>G (p.Asn764Ser)]
NM_001031715.3(IQCH):c.2291A>G (p.Asn764Ser)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
09p241 - Chromosomal Variation in Man
09p241 - Chromosomal Variation in Man
-
11q130 - Chromosomal Variation in Man
11q130 - Chromosomal Variation in Man
-
PREDICTED: Homo sapiens NEDD4 binding protein 2 (N4BP2), transcript variant X6, ...
PREDICTED: Homo sapiens NEDD4 binding protein 2 (N4BP2), transcript variant X6, mRNAgi|2217351422|ref|XM_047415955.1|Nucleotide
-
Chain C, PROTEIN S100-A12
Chain C, PROTEIN S100-A12gi|241913119|pdb|2WCF|CProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024