Links from Protein
Items: 1 to 20 of 332
1.
rs1490347745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:100509035
(GRCh38)
9:103271317
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100509034:T:A
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1489882446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:100547807
(GRCh38)
9:103310089
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100547806:T:G
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
3.
rs1489280382 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:100561407
(GRCh38)
9:103323689
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100561406:T:C
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1484413814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:100550106
(GRCh38)
9:103312388
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100550105:A:G
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1484252716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:100513329
(GRCh38)
9:103275611
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100513328:A:G
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1478696445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:100509066
(GRCh38)
9:103271348
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100509065:T:C
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1477149491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:100572615
(GRCh38)
9:103334897
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100572614:G:A
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1477098684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:100473670
(GRCh38)
9:103235952
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100473669:G:A
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview), LOC124902237 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000022/3
(GnomAD_exomes)
- HGVS:
10.
rs1475951760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:100473704
(GRCh38)
9:103235986
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100473703:T:C
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview), LOC124902237 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD_exomes)
C=0.000029/4
(GnomAD)
- HGVS:
11.
rs1475301965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 9:100547744
(GRCh38)
9:103310026
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100547743:G:A,NC_000009.12:100547743:G:C,NC_000009.12:100547743:G:T
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.100547744G>A, NC_000009.12:g.100547744G>C, NC_000009.12:g.100547744G>T, NC_000009.11:g.103310026G>A, NC_000009.11:g.103310026G>C, NC_000009.11:g.103310026G>T, NM_003692.5:c.561G>A, NM_003692.5:c.561G>C, NM_003692.5:c.561G>T, NM_003692.4:c.561G>A, NM_003692.4:c.561G>C, NM_003692.4:c.561G>T, NM_001198812.1:c.783G>A, NM_001198812.1:c.783G>C, NM_001198812.1:c.783G>T
12.
rs1473621417 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:100516759
(GRCh38)
9:103279041
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100516758:C:G,NC_000009.12:100516758:C:T
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
T=0.000223/1
(Estonian)
- HGVS:
NC_000009.12:g.100516759C>G, NC_000009.12:g.100516759C>T, NC_000009.11:g.103279041C>G, NC_000009.11:g.103279041C>T, NM_003692.5:c.548C>G, NM_003692.5:c.548C>T, NM_003692.4:c.548C>G, NM_003692.4:c.548C>T, NM_001198812.1:c.770C>G, NM_001198812.1:c.770C>T, NP_003683.2:p.Ala183Gly, NP_003683.2:p.Ala183Val, NP_001185741.1:p.Ala257Gly, NP_001185741.1:p.Ala257Val
14.
rs1467663264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:100509128
(GRCh38)
9:103271410
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100509127:T:A
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1462940374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:100498820
(GRCh38)
9:103261102
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100498819:T:C
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(GnomAD_exomes)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1461603750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:100473575
(GRCh38)
9:103235857
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100473574:C:G,NC_000009.12:100473574:C:T
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview), LOC124902237 (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1460466108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:100473567
(GRCh38)
9:103235849
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100473566:C:T
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview), LOC124902237 (Varview)
- Functional Consequence:
- missense_variant,2KB_upstream_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1457268844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:100498846
(GRCh38)
9:103261128
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100498845:A:G
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
19.
rs1453000362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:100498856
(GRCh38)
9:103261138
(GRCh37)
- Canonical SPDI:
- NC_000009.12:100498855:A:G,NC_000009.12:100498855:A:T
- Gene:
- TMEFF1 (Varview), MSANTD3-TMEFF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000028/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
NC_000009.12:g.100498856A>G, NC_000009.12:g.100498856A>T, NC_000009.11:g.103261138A>G, NC_000009.11:g.103261138A>T, NM_003692.5:c.288A>G, NM_003692.5:c.288A>T, NM_003692.4:c.288A>G, NM_003692.4:c.288A>T, NM_001198812.1:c.510A>G, NM_001198812.1:c.510A>T, NP_003683.2:p.Lys96Asn, NP_001185741.1:p.Lys170Asn