ClinVar

NM_002344.6(LTK):c.2447G>C (p.Arg816Thr)

Gene:

LTK:leukocyte receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q15.1

Genomic location:

• Chr15: 41504144 (on Assembly GRCh38)
• Chr15: 41796342 (on Assembly GRCh37)

Preferred name:

NM_002344.6(LTK):c.2447G>C (p.Arg816Thr)

HGVS:

• NC_000015.10:g.41504144C>G
• NM_001135685.2:c.2057G>C
• NM_002344.6:c.2447G>CMANE SELECT
• NM_206961.4:c.2264G>C
• NP_001129157.1:p.Arg686Thr
• NP_002335.2:p.Arg816Thr
• NP_996844.1:p.Arg755Thr
• NC_000015.9:g.41796342C>G

This HGVS expression did not pass validation

Protein change:

R686T

Links:

dbSNP: rs1566860960

NCBI 1000 Genomes Browser:

rs1566860960

Molecular consequence:

• NM_001135685.2:c.2057G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002344.6:c.2447G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_206961.4:c.2264G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3