ALMS1 I1875V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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ALMS1 I1875V

(ALMS1 Ile1875Val)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr2:73679280: 38.6% (3708/9606) in EVS
  • G @ chr2:73532787: 42.1% (53/126) in GET-Evidence
  • Frequency shown in summary reports: 38.6% (3708/9606)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr2:73679280



hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr2:73679280



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr2:73679280


GS06985 - var-GS06985-1100-36-ASM
het G @ chr2:73532788


GS06994 - var-GS06994-1100-36-ASM
het G @ chr2:73532788


GS10851 - var-GS10851-1100-36-ASM
het G @ chr2:73532788


GS18501 - var-GS18501-1100-36-ASM
hom G @ chr2:73532788


GS18502 - var-GS18502-1100-36-ASM
hom G @ chr2:73532788


GS18504 - var-GS18504-1100-36-ASM
hom G @ chr2:73532788


GS18505 - var-GS18505-1100-36-ASM
hom G @ chr2:73532788


GS18508 - var-GS18508-1100-36-ASM
hom G @ chr2:73532788


GS18517 - var-GS18517-1100-36-ASM
hom G @ chr2:73532788


GS19017 - var-GS19017-1100-36-ASM
hom G @ chr2:73532788


GS19020 - var-GS19020-1100-36-ASM
hom G @ chr2:73532788


GS19025 - var-GS19025-1100-36-ASM
hom G @ chr2:73532788


Added in this revision:

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr2:73532788
















Other external references

  • rs6546838
    Web search results (4 hits -- see all)
  • SNPs Identified in ALMS1
    I1875V. A/G. WIPGA_03_511. 5894. chr2:73653978. Mis-sense. view. R1928Q. G/A. WIPGA_03_512. 6320 ... and Genotyping > Candidate Gene List > ALMS1 Main Page > SNPs Identified in ALMS1 ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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