ClinVar

NM_130897.3(DYNLRB2):c.85C>T (p.Pro29Ser)

Genes:

DYNLRB2-AS1:DYNLRB2 antisense RNA 1 [Gene - HGNC]
DYNLRB2:dynein light chain roadblock-type 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

• Chr16: 80549489 (on Assembly GRCh38)
• Chr16: 80583386 (on Assembly GRCh37)

Preferred name:

NM_130897.3(DYNLRB2):c.85C>T (p.Pro29Ser)

HGVS:

• NC_000016.10:g.80549489C>T
• NM_001305017.2:c.172C>T
• NM_130897.3:c.85C>TMANE SELECT
• NP_001291946.1:p.Pro58Ser
• NP_570967.1:p.Pro29Ser
• NC_000016.9:g.80583386C>T
• NM_130897.1:c.85C>T
• NR_130942.2:n.710C>T
• NR_130943.2:n.259C>T

This HGVS expression did not pass validation

Protein change:

P29S

Molecular consequence:

• NM_001305017.2:c.172C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130897.3:c.85C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_130942.2:n.710C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_130943.2:n.259C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]