NM_000180.4(GUCY2D):c.468G>A (p.Gln156=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003802322.2
Allele description [Variation Report for NM_000180.4(GUCY2D):c.468G>A (p.Gln156=)]
NM_000180.4(GUCY2D):c.468G>A (p.Gln156=)
Condition(s)
- Name:
- Cone-rod dystrophy 6 (CORD6)
- Synonyms:
- Retinal cone dystrophy 2; Cone dystrophy progressive
- Identifiers:
- MONDO: MONDO:0011143; MedGen: C1866293; Orphanet: 1872; OMIM: 601777
- Name:
- Leber congenital amaurosis 1 (LCA1)
- Synonyms:
- AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000
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uncharacterized protein PtA15_6A144 [Puccinia triticina]
uncharacterized protein PtA15_6A144 [Puccinia triticina]gi|2436883452|ref|XP_053021071.1|Protein
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splicing factor 3a, subunit 2, 66kDa, partial [synthetic construct]
splicing factor 3a, subunit 2, 66kDa, partial [synthetic construct]gi|124000543|gb|ABM87780.1|Protein
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fumarate reductase catalytic and NAD/flavoprotein subunit FrdA, anaerobic [Esche...
fumarate reductase catalytic and NAD/flavoprotein subunit FrdA, anaerobic [Escherichia coli O111:H- str. 11128]gi|257767291|dbj|BAI38786.1|Protein
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RidA family protein [Intestinibacillus sp. NTUH-41-i26]
RidA family protein [Intestinibacillus sp. NTUH-41-i26]gi|2592856574|gnl|PRJNA1023627|RX71 50|gb|WOC75952.1|Protein
-
CDC42BPB [Propithecus coquereli]
CDC42BPB [Propithecus coquereli]Gene ID:105812579Gene
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Last Updated: Sep 29, 2024