HSPB7 heat shock protein family B (small) member 7

Canonical transcript: NM_014424

55 unique variant annotations were identified in 47 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-16340761-T-C c.*1314A>G - 3-UTRSNV 3/3 - 1
1-16340761-T-G c.*1314A>C - 3-UTRSNV 3/3 - 1
1-16340879-T-A c.*1196A>T - 3-UTRSNV 3/3 - 2
1-16340879-T-C c.*1196A>G - 3-UTRSNV 3/3 - 2
1-16340879-T-G c.*1196A>C - 3-UTRSNV 3/3 - 2
1-16340951-A-T c.*1124T>A - 3-UTRSNV 3/3 - 4
1-16341649-C-G c.*426G>C - 3-UTRSNV 3/3 - 5
1-16341649-C-T c.*426G>A - 3-UTRSNV 3/3 - 5
1-16341733-T-C c.*342A>G - 3-UTRSNV 3/3 - 1
1-16342103-T-G c.485A>C p.Gln162Pro Missense 3/3 - 1
1-16342110-C-T c.478G>A p.Val160Ile Missense 3/3 - 1
1-16342146-T-C c.442A>G p.Thr148Ala Missense 3/3 - 1
1-16342201-C-T c.387G>A p.Pro129Pro Synonymous 3/3 - 1
1-16342237-A-G c.351T>C p.Thr117Thr Synonymous 3/3 - 6
1-16342350-A-T c.334-96T>A - IntronicSNV - 2/2 3
1-16342419-A-G c.334-165T>C - IntronicSNV - 2/2 3
1-16342597-A-G c.334-343T>C - IntronicSNV - 2/2 1
1-16342602-C-T c.334-348G>A - IntronicSNV - 2/2 3
1-16342727-A-G c.334-473T>C - IntronicSNV - 2/2 3
1-16342737-T-C c.334-483A>G - IntronicSNV - 2/2 1
1-16342848-T-G c.334-594A>C - IntronicSNV - 2/2 3
1-16343079-G-A c.333+490C>T - IntronicSNV - 2/2 1
1-16343254-T-C c.333+315A>G - IntronicSNV - 2/2 24
1-16343297-C-T c.333+272G>A - IntronicSNV - 2/2 4
1-16343322-T-C c.333+247A>G - IntronicSNV - 2/2 3
1-16343324-G-A c.333+245C>T - IntronicSNV - 2/2 1
1-16343324-G-C c.333+245C>G - IntronicSNV - 2/2 1
1-16343324-G-T c.333+245C>A - IntronicSNV - 2/2 1
1-16343582-A-C c.320T>G p.Val107Gly Missense 2/3 - 1
1-16343696-G-C c.206C>G p.Pro69Arg Missense 2/3 - 1
1-16343815-C-A c.200-113G>T - IntronicSNV - 1/2 1
1-16343815-C-G c.200-113G>C - IntronicSNV - 1/2 1
1-16343815-C-T c.200-113G>A - IntronicSNV - 1/2 1
1-16343835-C-T c.200-133G>A - IntronicSNV - 1/2 3
1-16344083-T-C c.199+177A>G - IntronicSNV - 1/2 1
1-16344253-C-T c.199+7G>A - IntronicSNV - 1/2 1
1-16344307-T-C c.152A>G p.Asp51Gly Missense 1/3 - 1
1-16344308-C-T c.151G>A p.Asp51Asn Missense 1/3 - 1
1-16344313-GA-GG c.145delinsC p.Ser49Pro Missense 1/3 - 1
1-16344350-G-T c.109C>A p.Gln37Lys Missense 1/3 - 1
1-16344360-A-G c.99T>C p.Ala33Ala Synonymous 1/3 - 6
1-16344371-C-G c.88G>C p.Ala30Pro Missense 1/3 - 1
1-16344371-C-T c.88G>A p.Ala30Thr Missense 1/3 - 1
1-16344377-A-G c.82T>C p.Ser28Pro Missense 1/3 - 1
1-16344402-G-A c.57C>T p.Ser19Ser Synonymous 1/3 - 5
1-16344466-C-T c.-8G>A - 5-UTRSNV 1/3 - 1
1-16344494-G-A c.-36C>T - 5-UTRSNV 1/3 - 2
1-16344625-C-G c.-167G>C - 5-UTRSNV 1/3 - 2
1-16344664-G-A c.-206C>T - 5-UTRSNV 1/3 - 1
1-16344730-T-A c.-272A>T - 5-UTRSNV 1/3 - 1
1-16344730-T-C c.-272A>G - 5-UTRSNV 1/3 - 1
1-16344827-G-A c.-369C>T - 5-UTRSNV 1/3 - 2
1-16344827-G-C c.-369C>G - 5-UTRSNV 1/3 - 2
1-16344858-C-T c.-400G>A - 5-UTRSNV 1/3 - 2
1-16345208-G-A c.-750C>T - 5-UTRSNV 1/3 - 1