ClinVar

NM_002844.4(PTPRK):c.1573G>A (p.Glu525Lys)

Genes:

PTPRK-AS1:PTPRK antisense RNA 1 [Gene - HGNC]
PTPRK:protein tyrosine phosphatase receptor type K [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

• Chr6: 128083717 (on Assembly GRCh38)
• Chr6: 128404862 (on Assembly GRCh37)

Preferred name:

NM_002844.4(PTPRK):c.1573G>A (p.Glu525Lys)

HGVS:

• NC_000006.12:g.128083717C>T
• NM_001135648.3:c.1573G>A
• NM_001291981.2:c.1573G>A
• NM_001291982.2:c.1573G>A
• NM_001291983.2:c.1186G>A
• NM_001291984.2:c.1573G>A
• NM_002844.4:c.1573G>AMANE SELECT
• NP_001129120.1:p.Glu525Lys
• NP_001278910.1:p.Glu525Lys
• NP_001278911.1:p.Glu525Lys
• NP_001278912.1:p.Glu396Lys
• NP_001278913.1:p.Glu525Lys
• NP_002835.2:p.Glu525Lys
• NC_000006.11:g.128404862C>T
• NM_001135648.1:c.1573G>A
• NR_125849.1:n.336C>T

This HGVS expression did not pass validation

Protein change:

E396K

Molecular consequence:

• NM_001135648.3:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291981.2:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291982.2:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291983.2:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291984.2:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002844.4:c.1573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_125849.1:n.336C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]