ClinVar

NM_001393986.1(PRDM2):c.3070T>A (p.Ser1024Thr)

Gene:

PRDM2:PR/SET domain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.21

Genomic location:

• Chr1: 13780865 (on Assembly GRCh38)
• Chr1: 14107360 (on Assembly GRCh37)

Preferred name:

NM_001393986.1(PRDM2):c.3070T>A (p.Ser1024Thr)

HGVS:

• NC_000001.11:g.13780865T>A
• NM_001007257.3:c.2467T>A
• NM_001135610.2:c.511+31378T>A
• NM_001393986.1:c.3070T>AMANE SELECT
• NM_001393987.1:c.2467T>A
• NM_001393988.1:c.2467T>A
• NM_012231.5:c.3070T>A
• NM_015866.6:c.3070T>A
• NP_001007258.1:p.Ser823Thr
• NP_001380915.1:p.Ser1024Thr
• NP_001380916.1:p.Ser823Thr
• NP_001380917.1:p.Ser823Thr
• NP_036363.2:p.Ser1024Thr
• NP_036363.2:p.Ser1024Thr
• NP_056950.2:p.Ser1024Thr
• NC_000001.10:g.14107360T>A
• NM_012231.4:c.3070T>A

This HGVS expression did not pass validation

Protein change:

S1024T

Links:

dbSNP: rs41269807

NCBI 1000 Genomes Browser:

rs41269807

Molecular consequence:

• NM_001135610.2:c.511+31378T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001007257.3:c.2467T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393986.1:c.3070T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393987.1:c.2467T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001393988.1:c.2467T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012231.5:c.3070T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015866.6:c.3070T>A - missense variant - [Sequence Ontology: SO:0001583]