ClinVar

NM_001394807.1(ADPRHL1):c.1031C>T (p.Ala344Val)

Gene:

ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 113422856 (on Assembly GRCh38)
• Chr13: 114077171 (on Assembly GRCh37)

Preferred name:

NM_001394807.1(ADPRHL1):c.1031C>T (p.Ala344Val)

HGVS:

• NC_000013.11:g.113422856G>A
• NG_128596.1:g.489G>A
• NM_001394807.1:c.1031C>TMANE SELECT
• NM_138430.5:c.1031C>T
• NM_199162.3:c.785C>T
• NP_001381736.1:p.Ala344Val
• NP_612439.2:p.Ala344Val
• NP_954631.1:p.Ala262Val
• NC_000013.10:g.114077171G>A
• NM_138430.3:c.1031C>T

This HGVS expression did not pass validation

Protein change:

A262V

Molecular consequence:

• NM_001394807.1:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_138430.5:c.1031C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199162.3:c.785C>T - missense variant - [Sequence Ontology: SO:0001583]