ClinVar

NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 151404903 (on Assembly GRCh38)
• Chr1: 151377379 (on Assembly GRCh37)

Preferred name:

NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro)

HGVS:

• NC_000001.11:g.151404903T>G
• NG_046601.1:g.59563A>C
• NM_001194937.2:c.4105A>C
• NM_001194938.2:c.3946A>C
• NM_015100.4:c.4132A>CMANE SELECT
• NM_145796.4:c.3847A>C
• NM_207171.2:c.3973A>C
• NP_001181866.1:p.Thr1369Pro
• NP_001181867.1:p.Thr1316Pro
• NP_055915.2:p.Thr1378Pro
• NP_665739.3:p.Thr1283Pro
• NP_997054.1:p.Thr1325Pro
• NC_000001.10:g.151377379T>G
• NM_015100.3:c.4132A>C

This HGVS expression did not pass validation

Protein change:

T1283P

Links:

dbSNP: rs370498156

NCBI 1000 Genomes Browser:

rs370498156

Molecular consequence:

• NM_001194937.2:c.4105A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001194938.2:c.3946A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015100.4:c.4132A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_145796.4:c.3847A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_207171.2:c.3973A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1