ClinVar

NM_001142556.2(HMMR):c.1851A>T (p.Glu617Asp)

Genes:

HMMR-AS1:HMMR antisense RNA 1 [Gene - HGNC]
HMMR:hyaluronan mediated motility receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q34

Genomic location:

• Chr5: 163484134 (on Assembly GRCh38)
• Chr5: 162911140 (on Assembly GRCh37)

Preferred name:

NM_001142556.2(HMMR):c.1851A>T (p.Glu617Asp)

HGVS:

• NC_000005.10:g.163484134A>T
• NG_023309.1:g.28624A>T
• NM_001142556.2:c.1851A>TMANE SELECT
• NM_001142557.2:c.1590A>T
• NM_012484.3:c.1848A>T
• NM_012485.3:c.1803A>T
• NP_001136028.1:p.Glu617Asp
• NP_001136029.1:p.Glu530Asp
• NP_036616.2:p.Glu616Asp
• NP_036617.2:p.Glu601Asp
• NC_000005.9:g.162911140A>T
• NM_001142556.1:c.1851A>T

This HGVS expression did not pass validation

Protein change:

E530D

Molecular consequence:

• NM_001142556.2:c.1851A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142557.2:c.1590A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012484.3:c.1848A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012485.3:c.1803A>T - missense variant - [Sequence Ontology: SO:0001583]