SNP Links for Protein (Select 88501734) - SNP

Links from Protein

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Select item 14913520541.

rs1491352054 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 16:31330583 (GRCh38)
16:31341904 (GRCh37)
Canonical SPDI:: NC_000016.10:31330582:AG:
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31330583_31330584del, NC_000016.9:g.31341904_31341905del, NG_011719.1:g.75617_75618del, NM_000632.4:c.3254_3255del, NM_000632.3:c.3254_3255del, NM_001145808.2:c.3257_3258del, NM_001145808.1:c.3257_3258del, XM_011545850.3:c.3071_3072del, XM_011545850.2:c.3071_3072del, XM_011545850.1:c.3071_3072del, XR_950796.1:n.3347_3348del, XR_007064878.1:n.3344_3345del, NP_000623.2:p.Gln1085fs, NP_001139280.1:p.Gln1086fs, XP_011544152.1:p.Gln1024fs

Select item 14912145072.

rs1491214507 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:31330583 (GRCh38)
16:31341905 (GRCh37)
Canonical SPDI:: NC_000016.10:31330583:GGGGG:GGGGGG
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31330588dup, NC_000016.9:g.31341909dup, NG_011719.1:g.75622dup, NM_000632.4:c.3259dup, NM_000632.3:c.3259dup, NM_001145808.2:c.3262dup, NM_001145808.1:c.3262dup, XM_011545850.3:c.3076dup, XM_011545850.2:c.3076dup, XM_011545850.1:c.3076dup, XR_950796.1:n.3352dup, XR_007064878.1:n.3349dup, NP_000623.2:p.Ala1087fs, NP_001139280.1:p.Ala1088fs, XP_011544152.1:p.Ala1026fs

Select item 14906827083.

rs1490682708 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31324778 (GRCh38)
16:31336099 (GRCh37)
Canonical SPDI:: NC_000016.10:31324777:C:T
Gene:: ITGAM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31324778C>T, NC_000016.9:g.31336099C>T, NG_011719.1:g.69812C>T, NM_000632.4:c.2285C>T, NM_000632.3:c.2285C>T, NM_001145808.2:c.2288C>T, NM_001145808.1:c.2288C>T, XM_011545850.3:c.2102C>T, XM_011545850.2:c.2102C>T, XM_011545850.1:c.2102C>T, XM_017023216.2:c.2288C>T, XM_017023216.1:c.2288C>T, XR_950796.1:n.2378C>T, XR_007064878.1:n.2375C>T, NP_000623.2:p.Ala762Val, NP_001139280.1:p.Ala763Val, XP_011544152.1:p.Ala701Val, XP_016878705.1:p.Ala763Val

Select item 14897447964.

rs1489744796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:31330312 (GRCh38)
16:31341633 (GRCh37)
Canonical SPDI:: NC_000016.10:31330311:G:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31330312G>T, NC_000016.9:g.31341633G>T, NG_011719.1:g.75346G>T, NM_000632.4:c.3065G>T, NM_000632.3:c.3065G>T, NM_001145808.2:c.3068G>T, NM_001145808.1:c.3068G>T, XM_011545850.3:c.2882G>T, XM_011545850.2:c.2882G>T, XM_011545850.1:c.2882G>T, XR_950796.1:n.3158G>T, XR_007064878.1:n.3155G>T, NP_000623.2:p.Cys1022Phe, NP_001139280.1:p.Cys1023Phe, XP_011544152.1:p.Cys961Phe

Select item 14889487225.

rs1488948722 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31331207 (GRCh38)
16:31342528 (GRCh37)
Canonical SPDI:: NC_000016.10:31331206:C:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31331207C>T, NC_000016.9:g.31342528C>T, NG_011719.1:g.76241C>T, NM_000632.4:c.3319C>T, NM_000632.3:c.3319C>T, NM_001145808.2:c.3322C>T, NM_001145808.1:c.3322C>T, XM_011545850.3:c.3136C>T, XM_011545850.2:c.3136C>T, XM_011545850.1:c.3136C>T, XR_950796.1:n.3412C>T, XR_007064878.1:n.3409C>T, NP_000623.2:p.Pro1107Ser, NP_001139280.1:p.Pro1108Ser, XP_011544152.1:p.Pro1046Ser

Select item 14885993346.

rs1488599334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31297567 (GRCh38)
16:31308888 (GRCh37)
Canonical SPDI:: NC_000016.10:31297566:C:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31297567C>T, NC_000016.9:g.31308888C>T, NG_011719.1:g.42601C>T, NM_000632.4:c.1410C>T, NM_000632.3:c.1410C>T, NM_001145808.2:c.1410C>T, NM_001145808.1:c.1410C>T, XM_011545850.3:c.1224C>T, XM_011545850.2:c.1224C>T, XM_011545850.1:c.1224C>T, XM_011545851.3:c.1410C>T, XM_011545851.2:c.1410C>T, XM_011545851.1:c.1410C>T, XM_017023216.2:c.1410C>T, XM_017023216.1:c.1410C>T, XR_950796.1:n.1500C>T, XR_007064878.1:n.1500C>T, XM_006721045.1:c.1410C>T

Select item 14883512657.

rs1488351265 [Homo sapiens]

Variant type:: DEL
Alleles:: ACG>- [Show Flanks]
Chromosome:: 16:31326871 (GRCh38)
16:31338192 (GRCh37)
Canonical SPDI:: NC_000016.10:31326870:ACG:
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.31326871_31326873del, NC_000016.9:g.31338192_31338194del, NG_011719.1:g.71905_71907del, NM_000632.4:c.2644_2646del, NM_000632.3:c.2644_2646del, NM_001145808.2:c.2647_2649del, NM_001145808.1:c.2647_2649del, XM_011545850.3:c.2461_2463del, XM_011545850.2:c.2461_2463del, XM_011545850.1:c.2461_2463del, XM_017023216.2:c.2647_2649del, XM_017023216.1:c.2647_2649del, XR_950796.1:n.2737_2739del, XR_007064878.1:n.2734_2736del, NP_000623.2:p.Thr882del, NP_001139280.1:p.Thr883del, XP_011544152.1:p.Thr821del, XP_016878705.1:p.Thr883del

Select item 14875747068.

rs1487574706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31330419 (GRCh38)
16:31341740 (GRCh37)
Canonical SPDI:: NC_000016.10:31330418:A:G
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31330419A>G, NC_000016.9:g.31341740A>G, NG_011719.1:g.75453A>G, NM_000632.4:c.3172A>G, NM_000632.3:c.3172A>G, NM_001145808.2:c.3175A>G, NM_001145808.1:c.3175A>G, XM_011545850.3:c.2989A>G, XM_011545850.2:c.2989A>G, XM_011545850.1:c.2989A>G, XR_950796.1:n.3265A>G, XR_007064878.1:n.3262A>G, NP_000623.2:p.Lys1058Glu, NP_001139280.1:p.Lys1059Glu, XP_011544152.1:p.Lys997Glu

Select item 14874009559.

rs1487400955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:31265406 (GRCh38)
16:31276727 (GRCh37)
Canonical SPDI:: NC_000016.10:31265405:G:C,NC_000016.10:31265405:G:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
T=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.31265406G>C, NC_000016.10:g.31265406G>T, NC_000016.9:g.31276727G>C, NC_000016.9:g.31276727G>T, NG_011719.1:g.10440G>C, NG_011719.1:g.10440G>T, NM_000632.4:c.146G>C, NM_000632.4:c.146G>T, NM_000632.3:c.146G>C, NM_000632.3:c.146G>T, NM_001145808.2:c.146G>C, NM_001145808.2:c.146G>T, NM_001145808.1:c.146G>C, NM_001145808.1:c.146G>T, XM_011545850.3:c.-70G>C, XM_011545850.3:c.-70G>T, XM_011545850.2:c.-70G>C, XM_011545850.2:c.-70G>T, XM_011545850.1:c.-70G>C, XM_011545850.1:c.-70G>T, XM_011545851.3:c.146G>C, XM_011545851.3:c.146G>T, XM_011545851.2:c.146G>C, XM_011545851.2:c.146G>T, XM_011545851.1:c.146G>C, XM_011545851.1:c.146G>T, XM_017023216.2:c.146G>C, XM_017023216.2:c.146G>T, XM_017023216.1:c.146G>C, XM_017023216.1:c.146G>T, XR_950796.1:n.236G>C, XR_950796.1:n.236G>T, XR_007064878.1:n.236G>C, XR_007064878.1:n.236G>T, XM_006721045.1:c.146G>C, XM_006721045.1:c.146G>T, NP_000623.2:p.Gly49Ala, NP_000623.2:p.Gly49Val, NP_001139280.1:p.Gly49Ala, NP_001139280.1:p.Gly49Val, XP_011544153.1:p.Gly49Ala, XP_011544153.1:p.Gly49Val, XP_016878705.1:p.Gly49Ala, XP_016878705.1:p.Gly49Val, XP_006721108.1:p.Gly49Ala, XP_006721108.1:p.Gly49Val

Select item 148664803810.

rs1486648038 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31261709 (GRCh38)
16:31273030 (GRCh37)
Canonical SPDI:: NC_000016.10:31261708:G:A
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.31261709G>A, NC_000016.9:g.31273030G>A, NG_011719.1:g.6743G>A, NM_000632.4:c.46G>A, NM_000632.3:c.46G>A, NM_001145808.2:c.46G>A, NM_001145808.1:c.46G>A, XM_011545851.3:c.46G>A, XM_011545851.2:c.46G>A, XM_011545851.1:c.46G>A, XM_017023216.2:c.46G>A, XM_017023216.1:c.46G>A, XR_950796.1:n.136G>A, XR_007064878.1:n.136G>A, XM_006721045.1:c.46G>A, NP_000623.2:p.Gly16Arg, NP_001139280.1:p.Gly16Arg, XP_011544153.1:p.Gly16Arg, XP_016878705.1:p.Gly16Arg, XP_006721108.1:p.Gly16Arg

Select item 148649461511.

rs1486494615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:31331653 (GRCh38)
16:31342974 (GRCh37)
Canonical SPDI:: NC_000016.10:31331652:G:A,NC_000016.10:31331652:G:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.31331653G>A, NC_000016.10:g.31331653G>T, NC_000016.9:g.31342974G>A, NC_000016.9:g.31342974G>T, NG_011719.1:g.76687G>A, NG_011719.1:g.76687G>T, NM_000632.4:c.3405G>A, NM_000632.4:c.3405G>T, NM_000632.3:c.3405G>A, NM_000632.3:c.3405G>T, NM_001145808.2:c.3408G>A, NM_001145808.2:c.3408G>T, NM_001145808.1:c.3408G>A, NM_001145808.1:c.3408G>T, XM_011545850.3:c.3222G>A, XM_011545850.3:c.3222G>T, XM_011545850.2:c.3222G>A, XM_011545850.2:c.3222G>T, XM_011545850.1:c.3222G>A, XM_011545850.1:c.3222G>T, XR_950796.1:n.3498G>A, XR_950796.1:n.3498G>T, XR_007064878.1:n.3495G>A, XR_007064878.1:n.3495G>T

Select item 148637252412.

rs1486372524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31297788 (GRCh38)
16:31309109 (GRCh37)
Canonical SPDI:: NC_000016.10:31297787:G:A
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31297788G>A, NC_000016.9:g.31309109G>A, NG_011719.1:g.42822G>A, NM_000632.4:c.1541G>A, NM_000632.3:c.1541G>A, NM_001145808.2:c.1544G>A, NM_001145808.1:c.1544G>A, XM_011545850.3:c.1358G>A, XM_011545850.2:c.1358G>A, XM_011545850.1:c.1358G>A, XM_011545851.3:c.1544G>A, XM_011545851.2:c.1544G>A, XM_011545851.1:c.1544G>A, XM_017023216.2:c.1544G>A, XM_017023216.1:c.1544G>A, XR_950796.1:n.1634G>A, XR_007064878.1:n.1631G>A, XM_006721045.1:c.1541G>A, NP_000623.2:p.Gly514Asp, NP_001139280.1:p.Gly515Asp, XP_011544152.1:p.Gly453Asp, XP_011544153.1:p.Gly515Asp, XP_016878705.1:p.Gly515Asp, XP_006721108.1:p.Gly514Asp

Select item 148453201113.

rs1484532011 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31297563 (GRCh38)
16:31308884 (GRCh37)
Canonical SPDI:: NC_000016.10:31297562:A:G
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31297563A>G, NC_000016.9:g.31308884A>G, NG_011719.1:g.42597A>G, NM_000632.4:c.1406A>G, NM_000632.3:c.1406A>G, NM_001145808.2:c.1406A>G, NM_001145808.1:c.1406A>G, XM_011545850.3:c.1220A>G, XM_011545850.2:c.1220A>G, XM_011545850.1:c.1220A>G, XM_011545851.3:c.1406A>G, XM_011545851.2:c.1406A>G, XM_011545851.1:c.1406A>G, XM_017023216.2:c.1406A>G, XM_017023216.1:c.1406A>G, XR_950796.1:n.1496A>G, XR_007064878.1:n.1496A>G, XM_006721045.1:c.1406A>G, NP_000623.2:p.Asn469Ser, NP_001139280.1:p.Asn469Ser, XP_011544152.1:p.Asn407Ser, XP_011544153.1:p.Asn469Ser, XP_016878705.1:p.Asn469Ser, XP_006721108.1:p.Asn469Ser

Select item 148409090614.

rs1484090906 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31331693 (GRCh38)
16:31343014 (GRCh37)
Canonical SPDI:: NC_000016.10:31331692:G:A
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00007/1 (TOMMO)
HGVS:: NC_000016.10:g.31331693G>A, NC_000016.9:g.31343014G>A, NG_011719.1:g.76727G>A, NM_000632.4:c.3445G>A, NM_000632.3:c.3445G>A, NM_001145808.2:c.3448G>A, NM_001145808.1:c.3448G>A, XM_011545850.3:c.3262G>A, XM_011545850.2:c.3262G>A, XM_011545850.1:c.3262G>A, XR_950796.1:n.3538G>A, XR_007064878.1:n.3535G>A, NP_000623.2:p.Ala1149Thr, NP_001139280.1:p.Ala1150Thr, XP_011544152.1:p.Ala1088Thr

Select item 148281109015.

rs1482811090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31297750 (GRCh38)
16:31309071 (GRCh37)
Canonical SPDI:: NC_000016.10:31297749:T:C
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31297750T>C, NC_000016.9:g.31309071T>C, NG_011719.1:g.42784T>C, NM_000632.4:c.1503T>C, NM_000632.3:c.1503T>C, NM_001145808.2:c.1506T>C, NM_001145808.1:c.1506T>C, XM_011545850.3:c.1320T>C, XM_011545850.2:c.1320T>C, XM_011545850.1:c.1320T>C, XM_011545851.3:c.1506T>C, XM_011545851.2:c.1506T>C, XM_011545851.1:c.1506T>C, XM_017023216.2:c.1506T>C, XM_017023216.1:c.1506T>C, XR_950796.1:n.1596T>C, XR_007064878.1:n.1593T>C, XM_006721045.1:c.1503T>C

Select item 148277006016.

rs1482770060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31325377 (GRCh38)
16:31336698 (GRCh37)
Canonical SPDI:: NC_000016.10:31325376:G:C
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31325377G>C, NC_000016.9:g.31336698G>C, NG_011719.1:g.70411G>C, NM_000632.4:c.2478G>C, NM_000632.3:c.2478G>C, NM_001145808.2:c.2481G>C, NM_001145808.1:c.2481G>C, XM_011545850.3:c.2295G>C, XM_011545850.2:c.2295G>C, XM_011545850.1:c.2295G>C, XM_017023216.2:c.2481G>C, XM_017023216.1:c.2481G>C, XR_950796.1:n.2571G>C, XR_007064878.1:n.2568G>C

Select item 148233092817.

rs1482330928 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31321465 (GRCh38)
16:31332786 (GRCh37)
Canonical SPDI:: NC_000016.10:31321464:T:C
Gene:: ITGAM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.0055/10 (Korea1K)
HGVS:: NC_000016.10:g.31321465T>C, NC_000016.9:g.31332786T>C, NG_011719.1:g.66499T>C, NM_000632.4:c.1840T>C, NM_000632.3:c.1840T>C, NM_001145808.2:c.1843T>C, NM_001145808.1:c.1843T>C, XM_011545850.3:c.1657T>C, XM_011545850.2:c.1657T>C, XM_011545850.1:c.1657T>C, XM_017023216.2:c.1843T>C, XM_017023216.1:c.1843T>C, XR_950796.1:n.1933T>C, XR_007064878.1:n.1930T>C, NP_000623.2:p.Ser614Pro, NP_001139280.1:p.Ser615Pro, XP_011544152.1:p.Ser553Pro, XP_016878705.1:p.Ser615Pro

Select item 148042284118.

rs1480422841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31271909 (GRCh38)
16:31283230 (GRCh37)
Canonical SPDI:: NC_000016.10:31271908:C:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31271909C>T, NC_000016.9:g.31283230C>T, NG_011719.1:g.16943C>T, NM_000632.4:c.621C>T, NM_000632.3:c.621C>T, NM_001145808.2:c.621C>T, NM_001145808.1:c.621C>T, XM_011545850.3:c.435C>T, XM_011545850.2:c.435C>T, XM_011545850.1:c.435C>T, XM_011545851.3:c.621C>T, XM_011545851.2:c.621C>T, XM_011545851.1:c.621C>T, XM_017023216.2:c.621C>T, XM_017023216.1:c.621C>T, XR_950796.1:n.711C>T, XR_007064878.1:n.711C>T, XM_006721045.1:c.621C>T

Select item 147946554819.

rs1479465548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 16:31271967 (GRCh38)
16:31283288 (GRCh37)
Canonical SPDI:: NC_000016.10:31271960:ACACACAC:ACACAC
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACAC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.31271961AC[3], NC_000016.9:g.31283282AC[3], NG_011719.1:g.16995AC[3], NM_000632.4:c.679_680del, NM_000632.3:c.679_680del, NM_001145808.2:c.679_680del, NM_001145808.1:c.679_680del, XM_011545850.3:c.493_494del, XM_011545850.2:c.493_494del, XM_011545850.1:c.493_494del, XM_011545851.3:c.679_680del, XM_011545851.2:c.679_680del, XM_011545851.1:c.679_680del, XM_017023216.2:c.679_680del, XM_017023216.1:c.679_680del, XR_950796.1:n.763AC[3], XR_007064878.1:n.763AC[3], XM_006721045.1:c.679_680del, NP_000623.2:p.Thr227fs, NP_001139280.1:p.Thr227fs, XP_011544152.1:p.Thr165fs, XP_011544153.1:p.Thr227fs, XP_016878705.1:p.Thr227fs, XP_006721108.1:p.Thr227fs

Select item 147917798320.

rs1479177983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31266089 (GRCh38)
16:31277410 (GRCh37)
Canonical SPDI:: NC_000016.10:31266088:C:T
Gene:: ITGAM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31266089C>T, NC_000016.9:g.31277410C>T, NG_011719.1:g.11123C>T, NM_000632.4:c.369C>T, NM_000632.3:c.369C>T, NM_001145808.2:c.369C>T, NM_001145808.1:c.369C>T, XM_011545850.3:c.183C>T, XM_011545850.2:c.183C>T, XM_011545850.1:c.183C>T, XM_011545851.3:c.369C>T, XM_011545851.2:c.369C>T, XM_011545851.1:c.369C>T, XM_017023216.2:c.369C>T, XM_017023216.1:c.369C>T, XR_950796.1:n.459C>T, XR_007064878.1:n.459C>T, XM_006721045.1:c.369C>T

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