NM_000094.4(COL7A1):c.279C>T (p.Gly93=) AND Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001280169.1
Allele description [Variation Report for NM_000094.4(COL7A1):c.279C>T (p.Gly93=)]
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
Condition(s)
- Name:
- Epidermolysis bullosa dystrophica inversa, autosomal recessive
- Identifiers:
- MedGen: C2673612
-
reduced folate transporter isoform X6 [Homo sapiens]
reduced folate transporter isoform X6 [Homo sapiens]gi|2462499593|ref|XP_054189293.1|Protein
-
hypothetical protein M191_gp09 [Staphylococcus phage StauST398-2]
hypothetical protein M191_gp09 [Staphylococcus phage StauST398-2]gi|509139887|ref|YP_008058773.1|Protein
-
hypothetical protein CrRp10_cds57 [Citrobacter phage vB_CroM_CrRp10]
hypothetical protein CrRp10_cds57 [Citrobacter phage vB_CroM_CrRp10]gi|1336445366|gb|AUV59473.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024