NM_005199.5(CHRNG):c.1074C>T (p.His358=) AND Lethal multiple pterygium syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001094666.4
Allele description [Variation Report for NM_005199.5(CHRNG):c.1074C>T (p.His358=)]
NM_005199.5(CHRNG):c.1074C>T (p.His358=)
Condition(s)
-
Homo sapiens clone DNA173055 NGNL6975 (UNQ6975) mRNA, complete cds
Homo sapiens clone DNA173055 NGNL6975 (UNQ6975) mRNA, complete cdsgi|37181625|gb|AY358255.1|Nucleotide
-
PREDICTED: Homo sapiens leucine rich repeat LGI family member 4 (LGI4), transcri...
PREDICTED: Homo sapiens leucine rich repeat LGI family member 4 (LGI4), transcript variant X1, mRNAgi|1034606625|ref|XM_017026428.1|Nucleotide
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Last Updated: Sep 29, 2024