NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) AND COL1A1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004548123.1
Allele description [Variation Report for NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)]
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)
Condition(s)
- Name:
- COL1A1-related disorder
- Synonyms:
- COL1A1-related disease; COL1A1-related condition
- Identifiers:
-
uncharacterized protein AT3G63050 [Arabidopsis thaliana]
uncharacterized protein AT3G63050 [Arabidopsis thaliana]gi|18412594|ref|NP_567136.1|Protein
-
daj36g03.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078596 5' similar to ...
daj36g03.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078596 5' similar to SW:RCC_XENLA P25183 REGULATOR OF CHROMOSOME CONDENSATION, mRNA sequencegi|16439554|gnl|dbEST|10021876|gb|B 80.1|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5274777, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5274777, containing frame-shift errorsgi|42490869|gb|BC066317.1|Nucleotide
-
Homologene neighbors for GEO Profiles (Select 132512282) (0)
GEO Profiles
-
RCBTB1 RCC1 and BTB domain containing protein 1 [Homo sapiens]
RCBTB1 RCC1 and BTB domain containing protein 1 [Homo sapiens]Gene ID:55213Gene
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Last Updated: Oct 20, 2024