NM_033380.3(COL4A5):c.4775G>T (p.Cys1592Phe) AND Alport syndrome 1, X-linked recessive
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 4, 2012
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000021646.2
Allele description
NM_033380.3(COL4A5):c.4775G>T (p.Cys1592Phe)
Condition(s)
- Name:
- Alport syndrome 1, X-linked recessive (ATS1)
- Synonyms:
- NEPHROPATHY AND DEAFNESS, X-LINKED; Alport Syndrome and Thin Basement Membrane Nephropathy; X-linked Alport syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010520; MedGen: C4746986; Orphanet: 63; Orphanet: 88917; OMIM: 301050
-
翁殊斐 (0)
PMC
-
Homo sapiens mRNA; cDNA DKFZp686I09113 (from clone DKFZp686I09113)
Homo sapiens mRNA; cDNA DKFZp686I09113 (from clone DKFZp686I09113)gi|50949831|emb|CR627367.1|Nucleotide
-
Homo sapiens alpha-fetoprotein (AFP) mRNA, variant transcript A 5'UTR, alternati...
Homo sapiens alpha-fetoprotein (AFP) mRNA, variant transcript A 5'UTR, alternatively splicedgi|20799501|gb|AF484526.1|Nucleotide
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Mus musculus prostate apoptosis response 4 isoform P33 (Pawr) mRNA, complete cds
Mus musculus prostate apoptosis response 4 isoform P33 (Pawr) mRNA, complete cdsgi|91178232|gb|DQ449073.1|Nucleotide
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WRAP53 [Callithrix jacchus]
WRAP53 [Callithrix jacchus]Gene ID:100415352Gene
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Last Updated: Sep 29, 2021