ClinVar

NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2])

Gene:

CAVIN4:caveolae associated protein 4 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

9q31.1

Genomic location:

• Chr9: 100586071 - 100586091 (on Assembly GRCh38)
• Chr9: 103348353 - 103348373 (on Assembly GRCh37)

Preferred name:

NM_001018116.2(CAVIN4):c.721CTGAGACAGTCAGGGGAGAGG[1] (p.234LRQSGER[2])

HGVS:

• NC_000009.12:g.100586077CTGAGACAGTCAGGGGAGAGG[1]
• NG_033273.1:g.12999CTGAGACAGTCAGGGGAGAGG[1]
• NM_001018116.2:c.715_735del
• NM_001018116.2:c.721CTGAGACAGTCAGGGGAGAGG[1]MANE SELECT
• NP_001018126.1:p.234LRQSGER[2]
• LRG_760t1:c.721CTGAGACAGTCAGGGGAGAGG[1]
• LRG_760:g.12999CTGAGACAGTCAGGGGAGAGG[1]
• LRG_760p1:p.234LRQSGER[2]
• NC_000009.11:g.103348359CTGAGACAGTCAGGGGAGAGG[1]
• NM_001018116.2:c.715_735delMANE SELECT
• NM_001018116.2:c.742_762delMANE SELECT
• NM_001018116.2:c.742_762del21MANE SELECT

This HGVS expression did not pass validation

Links:

dbSNP: rs746462546

NCBI 1000 Genomes Browser:

rs746462546

Molecular consequence:

• NM_001018116.2:c.721CTGAGACAGTCAGGGGAGAGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]