ClinVar

NM_002844.4(PTPRK):c.4175T>A (p.Ile1392Asn)

Gene:

PTPRK:protein tyrosine phosphatase receptor type K [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q22.33

Genomic location:

• Chr6: 127973116 (on Assembly GRCh38)
• Chr6: 128294261 (on Assembly GRCh37)

Preferred name:

NM_002844.4(PTPRK):c.4175T>A (p.Ile1392Asn)

HGVS:

• NC_000006.12:g.127973116A>T
• NM_001135648.3:c.4193T>A
• NM_001291981.2:c.4241T>A
• NM_001291984.2:c.4172T>A
• NM_002844.4:c.4175T>AMANE SELECT
• NP_001129120.1:p.Ile1398Asn
• NP_001278910.1:p.Ile1414Asn
• NP_001278913.1:p.Ile1391Asn
• NP_002835.2:p.Ile1392Asn
• NC_000006.11:g.128294261A>T
• NM_001135648.1:c.4193T>A

This HGVS expression did not pass validation

Protein change:

I1391N

Molecular consequence:

• NM_001135648.3:c.4193T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291981.2:c.4241T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291984.2:c.4172T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002844.4:c.4175T>A - missense variant - [Sequence Ontology: SO:0001583]