NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=) AND Alstrom syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001440891.14
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=)]
NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=)
Condition(s)
-
glucan endo-1,3-beta-glucosidase 12 [Aegilops tauschii subsp. strangulata]
glucan endo-1,3-beta-glucosidase 12 [Aegilops tauschii subsp. strangulata]gi|1149771130|ref|XP_020149844.1|Protein
-
carboxy terminal-processing peptidase [Epilithonimonas zeae]
carboxy terminal-processing peptidase [Epilithonimonas zeae]gi|2235582792|gnl|PRJNA730364|KI430 0|gb|UQB68005.1|Protein
-
Probable S41A family C-terminal processing peptidase precursor [Flavobacterium p...
Probable S41A family C-terminal processing peptidase precursor [Flavobacterium psychrophilum JIP02/86]gi|149772904|emb|CAL44388.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024