ClinVar

NM_005543.4(INSL3):c.305G>A (p.Arg102His)

Gene:

INSL3:insulin like 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 17816945 (on Assembly GRCh38)
• Chr19: 17927754 (on Assembly GRCh37)

Preferred name:

NM_005543.4(INSL3):c.305G>A (p.Arg102His)

HGVS:

• NC_000019.10:g.17816945C>T
• NG_012092.1:g.9567G>A
• NM_001265587.2:c.400G>A
• NM_005543.4:c.305G>AMANE SELECT
• NP_001252516.1:p.Ala134Thr
• NP_005534.2:p.Arg102His
• NC_000019.9:g.17927754C>T
• P51460:p.Arg102His

This HGVS expression did not pass validation

Protein change:

A134T; ARG102HIS

Links:

UniProtKB: P51460#VAR_013237; OMIM: 146738.0004; dbSNP: rs121912556

NCBI 1000 Genomes Browser:

rs121912556

Molecular consequence:

• NM_001265587.2:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005543.4:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]