ClinVar

NM_001281775.3(ZMYND8):c.3623C>T (p.Ser1208Leu)

Gene:

ZMYND8:zinc finger MYND-type containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 47210843 (on Assembly GRCh38)
• Chr20: 45839488 (on Assembly GRCh37)

Preferred name:

NM_001281775.3(ZMYND8):c.3623C>T (p.Ser1208Leu)

HGVS:

• NC_000020.11:g.47210843G>A
• NM_001281771.3:c.3083C>T
• NM_001281772.3:c.3479C>T
• NM_001281773.3:c.3563C>T
• NM_001281774.3:c.3425C>T
• NM_001281775.3:c.3623C>TMANE SELECT
• NM_001281776.3:c.3242C>T
• NM_001281777.3:c.3410C>T
• NM_001281778.3:c.3464C>T
• NM_001281779.3:c.2681C>T
• NM_001281780.3:c.2597C>T
• NM_001281781.3:c.3185C>T
• NM_001281782.3:c.3329C>T
• NM_001281783.3:c.3539C>T
• NM_001281784.3:c.3323C>T
• NM_001363714.1:c.3644C>T
• NM_001363741.2:c.3479C>T
• NM_012408.6:c.3401C>T
• NM_183047.4:c.3485C>T
• NM_183048.4:c.3326C>T
• NP_001268700.1:p.Ser1028Leu
• NP_001268701.1:p.Ser1160Leu
• NP_001268702.1:p.Ser1188Leu
• NP_001268703.1:p.Ser1142Leu
• NP_001268704.1:p.Ser1208Leu
• NP_001268705.1:p.Ser1081Leu
• NP_001268706.1:p.Ser1137Leu
• NP_001268707.1:p.Ser1155Leu
• NP_001268708.1:p.Ser894Leu
• NP_001268709.1:p.Ser866Leu
• NP_001268710.1:p.Ser1062Leu
• NP_001268711.1:p.Ser1110Leu
• NP_001268712.1:p.Ser1180Leu
• NP_001268713.1:p.Ser1108Leu
• NP_001350643.1:p.Ser1215Leu
• NP_001350670.1:p.Ser1160Leu
• NP_036540.3:p.Ser1134Leu
• NP_898868.1:p.Ser1162Leu
• NP_898869.1:p.Ser1109Leu
• NC_000020.10:g.45839488G>A

This HGVS expression did not pass validation

Protein change:

S1028L

Molecular consequence:

• NM_001281771.3:c.3083C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281772.3:c.3479C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281773.3:c.3563C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281774.3:c.3425C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281775.3:c.3623C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281776.3:c.3242C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281777.3:c.3410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281778.3:c.3464C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281779.3:c.2681C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281780.3:c.2597C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281781.3:c.3185C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281782.3:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281783.3:c.3539C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281784.3:c.3323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363714.1:c.3644C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363741.2:c.3479C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012408.6:c.3401C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183047.4:c.3485C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183048.4:c.3326C>T - missense variant - [Sequence Ontology: SO:0001583]