ClinVar

NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys)

Gene:

POGZ:pogo transposable element derived with ZNF domain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 151405917 (on Assembly GRCh38)
• Chr1: 151378393 (on Assembly GRCh37)

Preferred name:

NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys)

HGVS:

• NC_000001.11:g.151405917C>T
• NG_046601.1:g.58549G>A
• NM_001194937.2:c.3091G>A
• NM_001194938.2:c.2932G>A
• NM_015100.4:c.3118G>AMANE SELECT
• NM_145796.4:c.2833G>A
• NM_207171.2:c.2959G>A
• NP_001181866.1:p.Glu1031Lys
• NP_001181867.1:p.Glu978Lys
• NP_055915.2:p.Glu1040Lys
• NP_665739.3:p.Glu945Lys
• NP_997054.1:p.Glu987Lys
• NC_000001.10:g.151378393C>T
• NM_015100.3:c.3118G>A

This HGVS expression did not pass validation

Protein change:

E1031K

Links:

dbSNP: rs2102146729

NCBI 1000 Genomes Browser:

rs2102146729

Molecular consequence:

• NM_001194937.2:c.3091G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001194938.2:c.2932G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015100.4:c.3118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145796.4:c.2833G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_207171.2:c.2959G>A - missense variant - [Sequence Ontology: SO:0001583]