NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004454640.1
Allele description [Variation Report for NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly)]
NM_001271838.2(RSRC1):c.637A>G (p.Arg213Gly)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
199048[uid] (1)
Taxonomy
-
Homo sapiens nei endonuclease VIII-like 1 (E. coli), mRNA (cDNA clone MGC:9973 I...
Homo sapiens nei endonuclease VIII-like 1 (E. coli), mRNA (cDNA clone MGC:9973 IMAGE:3879198), complete cdsgi|14790077|gb|BC010876.1|Nucleotide
-
CLTA clathrin light chain A [Homo sapiens]
CLTA clathrin light chain A [Homo sapiens]Gene ID:1211Gene
-
Gene Links for GEO Profiles (Select 12583177) (1)
Gene
-
Homo sapiens neuroligin 4 X-linked (NLGN4X), RefSeqGene on chromosome X
Homo sapiens neuroligin 4 X-linked (NLGN4X), RefSeqGene on chromosome Xgi|1151941802|ref|NG_008881.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024