NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter) AND Cataract 14 multiple types
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003517812.2
Allele description [Variation Report for NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)]
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
Condition(s)
- Name:
- Cataract 14 multiple types
- Synonyms:
- Zonular pulverulent cataract 3; CATARACT 14, ZONULAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011162; MedGen: C1866078; Orphanet: 91492; OMIM: 601885
-
Rattus norvegicus VPS29 retromer complex component (Vps29), mRNA
Rattus norvegicus VPS29 retromer complex component (Vps29), mRNAgi|157786943|ref|NM_001105932.1|Nucleotide
-
UI-R-CA0-bog-g-09-0-UI.s1 UI-R-CA0 Rattus norvegicus cDNA clone UI-R-CA0-bog-g-0...
UI-R-CA0-bog-g-09-0-UI.s1 UI-R-CA0 Rattus norvegicus cDNA clone UI-R-CA0-bog-g-09-0-UI 3', mRNA sequencegi|11401632|gnl|dbEST|6874485|gb|BF 3.1|Nucleotide
-
Rattus norvegicus strain BN/NHsdMcwi chromosome 13, GRCr8, whole genome shotgun ...
Rattus norvegicus strain BN/NHsdMcwi chromosome 13, GRCr8, whole genome shotgun sequencegi|2671914592|gnl|ASM:GCF_036323745 3|ref|NC_086031.1||gpp|GPC_000020856.1||gnl|NCBI_GENOMES|157502Nucleotide
-
Nannospalax leucodon isolate FK314 cytochrome b (cytb) gene, partial cds; mitoch...
Nannospalax leucodon isolate FK314 cytochrome b (cytb) gene, partial cds; mitochondrialgi|2636820803|gb|OR751044.1|Nucleotide
-
Homo sapiens long intergenic non-protein coding RNA 1177 (LINC01177), long non-c...
Homo sapiens long intergenic non-protein coding RNA 1177 (LINC01177), long non-coding RNAgi|700674302|ref|NR_126397.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024