ClinVar

NM_016033.3(RMDN1):c.71C>T (p.Pro24Leu)

Genes:

LOC130000699:ATAC-STARR-seq lymphoblastoid active region 27596 [Gene]
RMDN1:regulator of microtubule dynamics 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.3

Genomic location:

• Chr8: 86508550 (on Assembly GRCh38)
• Chr8: 87520779 (on Assembly GRCh37)

Preferred name:

NM_016033.3(RMDN1):c.71C>T (p.Pro24Leu)

HGVS:

• NC_000008.11:g.86508550G>A
• NG_180145.1:g.220G>A
• NM_001286707.2:c.71C>T
• NM_001286719.2:c.71C>T
• NM_001317807.2:c.-3-1438C>T
• NM_016033.3:c.71C>TMANE SELECT
• NP_001273636.1:p.Pro24Leu
• NP_001273648.1:p.Pro24Leu
• NP_057117.2:p.Pro24Leu
• NC_000008.10:g.87520779G>A
• NM_016033.2:c.71C>T

This HGVS expression did not pass validation

Protein change:

P24L

Molecular consequence:

• NM_001317807.2:c.-3-1438C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286707.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286719.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016033.3:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]