ClinVar

NM_001014809.3(CRMP1):c.1755del (p.Lys586fs)

Genes:

EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p16.2

Genomic location:

• Chr4: 5828537 (on Assembly GRCh38)
• Chr4: 5830264 (on Assembly GRCh37)

Preferred name:

NM_001014809.3(CRMP1):c.1755del (p.Lys586fs)

HGVS:

• NC_000004.12:g.5828538del
• NG_008843.2:g.122339del
• NM_001014809.3:c.1755delMANE SELECT
• NM_001288661.2:c.1407del
• NM_001288662.1:c.1395del
• NM_001313.5:c.1413del
• NP_001014809.1:p.Lys586fs
• NP_001275590.1:p.Lys470fs
• NP_001275591.1:p.Lys466fs
• NP_001304.1:p.Lys472fs
• NC_000004.11:g.5830265del
• NM_001014809.3:c.1755delGMANE SELECT

This HGVS expression did not pass validation

Protein change:

K466fs

Molecular consequence:

• NM_001014809.3:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001288661.2:c.1407del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001288662.1:c.1395del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001313.5:c.1413del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1