ClinVar

NM_153827.5(MINK1):c.2462T>C (p.Met821Thr)

Gene:

MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 4893495 (on Assembly GRCh38)
• Chr17: 4796790 (on Assembly GRCh37)

Preferred name:

NM_153827.5(MINK1):c.2462T>C (p.Met821Thr)

HGVS:

• NC_000017.11:g.4893495T>C
• NG_028005.1:g.65156T>C
• NM_001024937.4:c.2402T>C
• NM_001321236.2:c.2186T>C
• NM_015716.5:c.2351T>C
• NM_153827.5:c.2462T>CMANE SELECT
• NM_170663.5:c.2375T>C
• NP_001020108.1:p.Met801Thr
• NP_001308165.1:p.Met729Thr
• NP_056531.1:p.Met784Thr
• NP_722549.2:p.Met821Thr
• NP_733763.1:p.Met792Thr
• NC_000017.10:g.4796790T>C
• NM_153827.4:c.2462T>C

This HGVS expression did not pass validation

Protein change:

M729T

Molecular consequence:

• NM_001024937.4:c.2402T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321236.2:c.2186T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015716.5:c.2351T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_153827.5:c.2462T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_170663.5:c.2375T>C - missense variant - [Sequence Ontology: SO:0001583]