SNP Links for Protein (Select 365192558) - SNP

Links from Protein

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Select item 14895646581.

rs1489564658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:123464943 (GRCh38)
6:123786088 (GRCh37)
Canonical SPDI:: NC_000006.12:123464942:T:C
Gene:: TRDN (Varview), TRDN-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.123464943T>C, NC_000006.11:g.123786088T>C, NG_030438.1:g.177151A>G, NM_006073.4:c.894A>G, NM_006073.3:c.894A>G, NM_001251987.2:c.894A>G, NM_001251987.1:c.894A>G, NM_001256020.2:c.834A>G, NM_001256020.1:c.834A>G, NM_001407315.1:c.834A>G

Select item 14882181572.

rs1488218157 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:123503789 (GRCh38)
6:123824934 (GRCh37)
Canonical SPDI:: NC_000006.12:123503788:C:A
Gene:: TRDN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000006.12:g.123503789C>A, NC_000006.11:g.123824934C>A, NG_030438.1:g.138305G>T, NM_006073.4:c.723G>T, NM_006073.3:c.723G>T, NM_001251987.2:c.723G>T, NM_001251987.1:c.723G>T, NM_001256021.2:c.723G>T, NM_001256021.1:c.723G>T, NM_001256020.2:c.723G>T, NM_001256020.1:c.723G>T, NM_001407315.1:c.723G>T, NP_006064.2:p.Gln241His, NP_001238916.1:p.Gln241His, NP_001242950.1:p.Gln241His, NP_001242949.1:p.Gln241His

Select item 14861637133.

rs1486163713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:123636772 (GRCh38)
6:123957917 (GRCh37)
Canonical SPDI:: NC_000006.12:123636771:T:A
Gene:: TRDN (Varview), LOC105377981 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.123636772T>A, NC_000006.11:g.123957917T>A, NG_030438.1:g.5322A>T, NM_006073.4:c.4A>T, NM_006073.3:c.4A>T, NM_001251987.2:c.4A>T, NM_001251987.1:c.4A>T, NM_001256021.2:c.4A>T, NM_001256021.1:c.4A>T, NM_001256020.2:c.4A>T, NM_001256020.1:c.4A>T, NM_001256022.2:c.4A>T, NM_001256022.1:c.4A>T, NM_001407315.1:c.4A>T, NP_006064.2:p.Thr2Ser, NP_001238916.1:p.Thr2Ser, NP_001242950.1:p.Thr2Ser, NP_001242949.1:p.Thr2Ser, NP_001242951.1:p.Thr2Ser

Select item 14848070034.

rs1484807003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:123548574 (GRCh38)
6:123869719 (GRCh37)
Canonical SPDI:: NC_000006.12:123548573:G:A
Gene:: TRDN (Varview), LOC105377982 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.123548574G>A, NC_000006.11:g.123869719G>A, NG_030438.1:g.93520C>T, NM_006073.4:c.271C>T, NM_006073.3:c.271C>T, NM_001251987.2:c.271C>T, NM_001251987.1:c.271C>T, NM_001256021.2:c.271C>T, NM_001256021.1:c.271C>T, NM_001256020.2:c.271C>T, NM_001256020.1:c.271C>T, NM_001256022.2:c.271C>T, NM_001256022.1:c.271C>T, NM_001407315.1:c.271C>T

Select item 14844320395.

rs1484432039 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:123636771 (GRCh38)
6:123957916 (GRCh37)
Canonical SPDI:: NC_000006.12:123636770:G:C
Gene:: TRDN (Varview), LOC105377981 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123636771G>C, NC_000006.11:g.123957916G>C, NG_030438.1:g.5323C>G, NM_006073.4:c.5C>G, NM_006073.3:c.5C>G, NM_001251987.2:c.5C>G, NM_001251987.1:c.5C>G, NM_001256021.2:c.5C>G, NM_001256021.1:c.5C>G, NM_001256020.2:c.5C>G, NM_001256020.1:c.5C>G, NM_001256022.2:c.5C>G, NM_001256022.1:c.5C>G, NM_001407315.1:c.5C>G, NP_006064.2:p.Thr2Ser, NP_001238916.1:p.Thr2Ser, NP_001242950.1:p.Thr2Ser, NP_001242949.1:p.Thr2Ser, NP_001242951.1:p.Thr2Ser

Select item 14841018276.

rs1484101827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:123571064 (GRCh38)
6:123892209 (GRCh37)
Canonical SPDI:: NC_000006.12:123571063:C:A
Gene:: TRDN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123571064C>A, NC_000006.11:g.123892209C>A, NG_030438.1:g.71030G>T, NM_006073.4:c.91G>T, NM_006073.3:c.91G>T, NM_001251987.2:c.91G>T, NM_001251987.1:c.91G>T, NM_001256021.2:c.91G>T, NM_001256021.1:c.91G>T, NM_001256020.2:c.91G>T, NM_001256020.1:c.91G>T, NM_001256022.2:c.91G>T, NM_001256022.1:c.91G>T, NM_001407315.1:c.91G>T, NP_006064.2:p.Val31Leu, NP_001238916.1:p.Val31Leu, NP_001242950.1:p.Val31Leu, NP_001242949.1:p.Val31Leu, NP_001242951.1:p.Val31Leu

Select item 14816731937.

rs1481673193 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:123512350 (GRCh38)
6:123833495 (GRCh37)
Canonical SPDI:: NC_000006.12:123512349:T:A,NC_000006.12:123512349:T:G
Gene:: TRDN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123512350T>A, NC_000006.12:g.123512350T>G, NC_000006.11:g.123833495T>A, NC_000006.11:g.123833495T>G, NG_030438.1:g.129744A>T, NG_030438.1:g.129744A>C, NM_006073.4:c.563A>T, NM_006073.4:c.563A>C, NM_006073.3:c.563A>T, NM_006073.3:c.563A>C, NM_001251987.2:c.563A>T, NM_001251987.2:c.563A>C, NM_001251987.1:c.563A>T, NM_001251987.1:c.563A>C, NM_001256021.2:c.563A>T, NM_001256021.2:c.563A>C, NM_001256021.1:c.563A>T, NM_001256021.1:c.563A>C, NM_001256020.2:c.563A>T, NM_001256020.2:c.563A>C, NM_001256020.1:c.563A>T, NM_001256020.1:c.563A>C, NM_001407315.1:c.563A>T, NM_001407315.1:c.563A>C, NP_006064.2:p.Glu188Val, NP_006064.2:p.Glu188Ala, NP_001238916.1:p.Glu188Val, NP_001238916.1:p.Glu188Ala, NP_001242950.1:p.Glu188Val, NP_001242950.1:p.Glu188Ala, NP_001242949.1:p.Glu188Val, NP_001242949.1:p.Glu188Ala

Select item 14774677428.

rs1477467742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:123571081 (GRCh38)
6:123892226 (GRCh37)
Canonical SPDI:: NC_000006.12:123571080:G:A
Gene:: TRDN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123571081G>A, NC_000006.11:g.123892226G>A, NG_030438.1:g.71013C>T, NM_006073.4:c.74C>T, NM_006073.3:c.74C>T, NM_001251987.2:c.74C>T, NM_001251987.1:c.74C>T, NM_001256021.2:c.74C>T, NM_001256021.1:c.74C>T, NM_001256020.2:c.74C>T, NM_001256020.1:c.74C>T, NM_001256022.2:c.74C>T, NM_001256022.1:c.74C>T, NM_001407315.1:c.74C>T, NP_006064.2:p.Pro25Leu, NP_001238916.1:p.Pro25Leu, NP_001242950.1:p.Pro25Leu, NP_001242949.1:p.Pro25Leu, NP_001242951.1:p.Pro25Leu

Select item 14767954239.

rs1476795423 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTG [Show Flanks]
Chromosome:: 6:123503792 (GRCh38)
6:123824938 (GRCh37)
Canonical SPDI:: NC_000006.12:123503792::TTTTG
Gene:: TRDN (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTG=0./0 (ALFA)
TTTTG=0.000004/1 (TOPMED)
TTTTG=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.123503792_123503793insTTTTG, NC_000006.11:g.123824937_123824938insTTTTG, NG_030438.1:g.138301_138302insCAAAA, NM_006073.4:c.719_720insCAAAA, NM_006073.3:c.719_720insCAAAA, NM_001251987.2:c.719_720insCAAAA, NM_001251987.1:c.719_720insCAAAA, NM_001256021.2:c.719_720insCAAAA, NM_001256021.1:c.719_720insCAAAA, NM_001256020.2:c.719_720insCAAAA, NM_001256020.1:c.719_720insCAAAA, NM_001407315.1:c.719_720insCAAAA, NP_006064.2:p.Gln241fs, NP_001238916.1:p.Gln241fs, NP_001242950.1:p.Gln241fs, NP_001242949.1:p.Gln241fs

Select item 146829089810.

rs1468290898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:123516162 (GRCh38)
6:123837307 (GRCh37)
Canonical SPDI:: NC_000006.12:123516161:T:A
Gene:: TRDN (Varview)
Functional Consequence:: stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.123516162T>A, NC_000006.11:g.123837307T>A, NG_030438.1:g.125932A>T, NM_006073.4:c.529A>T, NM_006073.3:c.529A>T, NM_001251987.2:c.529A>T, NM_001251987.1:c.529A>T, NM_001256021.2:c.529A>T, NM_001256021.1:c.529A>T, NM_001256020.2:c.529A>T, NM_001256020.1:c.529A>T, NM_001407315.1:c.529A>T, NP_006064.2:p.Lys177Ter, NP_001238916.1:p.Lys177Ter, NP_001242950.1:p.Lys177Ter, NP_001242949.1:p.Lys177Ter

Select item 146234518311.

rs1462345183 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:123503730 (GRCh38)
6:123824875 (GRCh37)
Canonical SPDI:: NC_000006.12:123503729:T:C
Gene:: TRDN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.123503730T>C, NC_000006.11:g.123824875T>C, NG_030438.1:g.138364A>G, NM_006073.4:c.782A>G, NM_006073.3:c.782A>G, NM_001251987.2:c.782A>G, NM_001251987.1:c.782A>G, NM_001256021.2:c.782A>G, NM_001256021.1:c.782A>G, NM_001256020.2:c.782A>G, NM_001256020.1:c.782A>G, NM_001407315.1:c.782A>G, NP_006064.2:p.His261Arg, NP_001238916.1:p.His261Arg, NP_001242950.1:p.His261Arg, NP_001242949.1:p.His261Arg

Select item 145875919612.

rs1458759196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:123570964 (GRCh38)
6:123892109 (GRCh37)
Canonical SPDI:: NC_000006.12:123570963:G:T
Gene:: TRDN (Varview), LOC105377982 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123570964G>T, NC_000006.11:g.123892109G>T, NG_030438.1:g.71130C>A, NM_006073.4:c.191C>A, NM_006073.3:c.191C>A, NM_001251987.2:c.191C>A, NM_001251987.1:c.191C>A, NM_001256021.2:c.191C>A, NM_001256021.1:c.191C>A, NM_001256020.2:c.191C>A, NM_001256020.1:c.191C>A, NM_001256022.2:c.191C>A, NM_001256022.1:c.191C>A, NM_001407315.1:c.191C>A, NP_006064.2:p.Ala64Asp, NP_001238916.1:p.Ala64Asp, NP_001242950.1:p.Ala64Asp, NP_001242949.1:p.Ala64Asp, NP_001242951.1:p.Ala64Asp

Select item 145650444013.

rs1456504440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:123464921 (GRCh38)
6:123786066 (GRCh37)
Canonical SPDI:: NC_000006.12:123464920:A:G
Gene:: TRDN (Varview), TRDN-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.123464921A>G, NC_000006.11:g.123786066A>G, NG_030438.1:g.177173T>C, NM_006073.4:c.916T>C, NM_006073.3:c.916T>C, NM_001251987.2:c.916T>C, NM_001251987.1:c.916T>C, NM_001256020.2:c.856T>C, NM_001256020.1:c.856T>C, NM_001407315.1:c.856T>C, NP_006064.2:p.Ser306Pro, NP_001238916.1:p.Ser306Pro, NP_001242949.1:p.Ser286Pro

Select item 145490997714.

rs1454909977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:123464933 (GRCh38)
6:123786078 (GRCh37)
Canonical SPDI:: NC_000006.12:123464932:G:A
Gene:: TRDN (Varview), TRDN-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000006.12:g.123464933G>A, NC_000006.11:g.123786078G>A, NG_030438.1:g.177161C>T, NM_006073.4:c.904C>T, NM_006073.3:c.904C>T, NM_001251987.2:c.904C>T, NM_001251987.1:c.904C>T, NM_001256020.2:c.844C>T, NM_001256020.1:c.844C>T, NM_001407315.1:c.844C>T, NP_006064.2:p.Pro302Ser, NP_001238916.1:p.Pro302Ser, NP_001242949.1:p.Pro282Ser

Select item 145215883815.

rs1452158838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:123548514 (GRCh38)
6:123869659 (GRCh37)
Canonical SPDI:: NC_000006.12:123548513:A:G
Gene:: TRDN (Varview), LOC105377982 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.123548514A>G, NC_000006.11:g.123869659A>G, NG_030438.1:g.93580T>C, NM_006073.4:c.331T>C, NM_006073.3:c.331T>C, NM_001251987.2:c.331T>C, NM_001251987.1:c.331T>C, NM_001256021.2:c.331T>C, NM_001256021.1:c.331T>C, NM_001256020.2:c.331T>C, NM_001256020.1:c.331T>C, NM_001256022.2:c.331T>C, NM_001256022.1:c.331T>C, NM_001407315.1:c.331T>C, NP_006064.2:p.Ser111Pro, NP_001238916.1:p.Ser111Pro, NP_001242950.1:p.Ser111Pro, NP_001242949.1:p.Ser111Pro, NP_001242951.1:p.Ser111Pro

Select item 144942161716.

rs1449421617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:123530553 (GRCh38)
6:123851698 (GRCh37)
Canonical SPDI:: NC_000006.12:123530552:T:C
Gene:: TRDN (Varview), LOC105377982 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.123530553T>C, NC_000006.11:g.123851698T>C, NG_030438.1:g.111541A>G, NM_006073.4:c.437A>G, NM_006073.3:c.437A>G, NM_001251987.2:c.437A>G, NM_001251987.1:c.437A>G, NM_001256021.2:c.437A>G, NM_001256021.1:c.437A>G, NM_001256020.2:c.437A>G, NM_001256020.1:c.437A>G, NM_001256022.2:c.437A>G, NM_001256022.1:c.437A>G, NM_001407315.1:c.437A>G, NP_006064.2:p.Asp146Gly, NP_001238916.1:p.Asp146Gly, NP_001242950.1:p.Asp146Gly, NP_001242949.1:p.Asp146Gly, NP_001242951.1:p.Asp146Gly

Select item 144673353217.

rs1446733532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:123570983 (GRCh38)
6:123892128 (GRCh37)
Canonical SPDI:: NC_000006.12:123570982:T:C
Gene:: TRDN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.123570983T>C, NC_000006.11:g.123892128T>C, NG_030438.1:g.71111A>G, NM_006073.4:c.172A>G, NM_006073.3:c.172A>G, NM_001251987.2:c.172A>G, NM_001251987.1:c.172A>G, NM_001256021.2:c.172A>G, NM_001256021.1:c.172A>G, NM_001256020.2:c.172A>G, NM_001256020.1:c.172A>G, NM_001256022.2:c.172A>G, NM_001256022.1:c.172A>G, NM_001407315.1:c.172A>G, NP_006064.2:p.Ile58Val, NP_001238916.1:p.Ile58Val, NP_001242950.1:p.Ile58Val, NP_001242949.1:p.Ile58Val, NP_001242951.1:p.Ile58Val

Select item 144626499418.

rs1446264994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:123503890 (GRCh38)
6:123825035 (GRCh37)
Canonical SPDI:: NC_000006.12:123503889:C:A
Gene:: TRDN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.123503890C>A, NC_000006.11:g.123825035C>A, NG_030438.1:g.138204G>T, NM_006073.4:c.622G>T, NM_006073.3:c.622G>T, NM_001251987.2:c.622G>T, NM_001251987.1:c.622G>T, NM_001256021.2:c.622G>T, NM_001256021.1:c.622G>T, NM_001256020.2:c.622G>T, NM_001256020.1:c.622G>T, NM_001407315.1:c.622G>T, NP_006064.2:p.Ala208Ser, NP_001238916.1:p.Ala208Ser, NP_001242950.1:p.Ala208Ser, NP_001242949.1:p.Ala208Ser

Select item 144257986419.

rs1442579864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:123464971 (GRCh38)
6:123786116 (GRCh37)
Canonical SPDI:: NC_000006.12:123464970:G:A
Gene:: TRDN (Varview), TRDN-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.123464971G>A, NC_000006.11:g.123786116G>A, NG_030438.1:g.177123C>T, NM_006073.4:c.866C>T, NM_006073.3:c.866C>T, NM_001251987.2:c.866C>T, NM_001251987.1:c.866C>T, NM_001256020.2:c.806C>T, NM_001256020.1:c.806C>T, NM_001407315.1:c.806C>T, NP_006064.2:p.Ala289Val, NP_001238916.1:p.Ala289Val, NP_001242949.1:p.Ala269Val

Select item 144067020820.

rs1440670208 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:123503781 (GRCh38)
6:123824926 (GRCh37)
Canonical SPDI:: NC_000006.12:123503780:GG:G
Gene:: TRDN (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.123503782del, NC_000006.11:g.123824927del, NG_030438.1:g.138313del, NM_006073.4:c.731del, NM_006073.3:c.731del, NM_001251987.2:c.731del, NM_001251987.1:c.731del, NM_001256021.2:c.731del, NM_001256021.1:c.731del, NM_001256020.2:c.731del, NM_001256020.1:c.731del, NM_001407315.1:c.731del, NP_006064.2:p.Pro244fs, NP_001238916.1:p.Pro244fs, NP_001242950.1:p.Pro244fs, NP_001242949.1:p.Pro244fs

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