Links from Protein
Items: 1 to 20 of 431
1.
rs1488901382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:155070904
(GRCh38)
7:154862614
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155070903:A:G
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1487521017 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCCAC>-
[Show Flanks]
- Chromosome:
- 7:155084203
(GRCh38)
7:154875913
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155084196:CGCCACGCCAC:CGCCAC
- Gene:
- HTR5A (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCCAC=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1486400186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:155084432
(GRCh38)
7:154876142
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155084431:C:T
- Gene:
- HTR5A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1486203472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:155071438
(GRCh38)
7:154863148
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071437:G:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
6.
rs1485236602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:155071561
(GRCh38)
7:154863271
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071560:G:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000043/1
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.00003/8
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
7.
rs1483431534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:155071085
(GRCh38)
7:154862795
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071084:G:A
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1477668480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:155084237
(GRCh38)
7:154875947
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155084236:G:T
- Gene:
- HTR5A (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1468208298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:155071338
(GRCh38)
7:154863048
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071337:A:G
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1465336659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:155070984
(GRCh38)
7:154862694
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155070983:C:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.0003/1
(KOREAN)
- HGVS:
11.
rs1464405123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:155070917
(GRCh38)
7:154862627
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155070916:C:A
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1461352395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:155071426
(GRCh38)
7:154863136
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071425:C:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000012/3
(GnomAD_exomes)
- HGVS:
14.
rs1454435007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:155071515
(GRCh38)
7:154863225
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071514:G:A,NC_000007.14:155071514:G:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000007.14:g.155071515G>A, NC_000007.14:g.155071515G>T, NC_000007.13:g.154863225G>A, NC_000007.13:g.154863225G>T, NG_044997.1:g.6192G>A, NG_044997.1:g.6192G>T, NM_024012.4:c.616G>A, NM_024012.4:c.616G>T, NM_024012.3:c.616G>A, NM_024012.3:c.616G>T, NR_038945.1:n.43C>T, NR_038945.1:n.43C>A, NP_076917.1:p.Val206Ile, NP_076917.1:p.Val206Leu
15.
rs1452403905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:155071585
(GRCh38)
7:154863295
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071584:T:C
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1451679839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:155071135
(GRCh38)
7:154862845
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071134:T:C
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1451359946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 7:155084303
(GRCh38)
7:154876013
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155084302:G:C,NC_000007.14:155084302:G:T
- Gene:
- HTR5A (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000028/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000036/5
(GnomAD)
- HGVS:
NC_000007.14:g.155084303G>C, NC_000007.14:g.155084303G>T, NC_000007.13:g.154876013G>C, NC_000007.13:g.154876013G>T, NG_044997.1:g.18980G>C, NG_044997.1:g.18980G>T, NM_024012.4:c.890G>C, NM_024012.4:c.890G>T, NM_024012.3:c.890G>C, NM_024012.3:c.890G>T, NP_076917.1:p.Cys297Ser, NP_076917.1:p.Cys297Phe
18.
rs1449177547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:155071116
(GRCh38)
7:154862826
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071115:C:A
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1448866404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:155071207
(GRCh38)
7:154862917
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071206:C:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1442673000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:155071249
(GRCh38)
7:154862959
(GRCh37)
- Canonical SPDI:
- NC_000007.14:155071248:G:T
- Gene:
- HTR5A (Varview), HTR5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000051/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000008/2
(GnomAD_exomes)
- HGVS: